help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

A caring voice in difficult times...


“Thanks so much for your time yesterday, it meant an awful lot to have a caring, informed voice on the end of the phone in these particularly difficult times.”

Please make a donation so we can help even more families like this, when they most need us, or scroll down for some fundraising ideas.

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Pages

Glossary

Unique GLOSSARY of genetic / genomic terms General Acrocentric a chromosome whose centromere is close to the end of the p-arm (chromosomes 13, 14, 15, 21 and 22). Allele different...

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Resources

Do take a look around the site but to help you find your way around, here are quick links to some of our most popular pages:...

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Terms & Conditions

These Terms and Conditions apply to everyone using the Unique Members Area including social networks such as Facebook and Twitter. Unique believes that online social networks, chat rooms, message boards,...

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Donation Confirmation

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Annual Reports

You can download copies of Unique annual reports and accounts by clicking on one of the links below: Unique Annual Report and Accounts 2023 (Registered Charity 1110661, Company Number 5460413)...

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Funding Sources

Unique is a charity and receives no government funding. To continue our work, we rely on voluntary donations and fundraising from registered members, their families, friends and work colleagues as well as the general...

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Disorder Guides

Rare Chromosome & Gene Disorder Guides Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages. Please note...

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Cookie Policy

Use of Cookies by Unique Cookies are small text files that are placed on your computer by websites that you visit. They are widely used in order to make websites...

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Practical Guides for Families

Keeping you informed To read and download any of our practical guides for families, including our brand new Self-Isolation Resources Guide, click View below. If you would like to see...

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Accessibility

Accessibility Options We at Unique are committed to offering a website that is accessible to the widest audience possible, regardless of the technology available to them or their own ability....

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Advertising Policy

The Unique website www.rarechromo.org does not carry advertising and none of the space or content has been sold or leased to any third party for the purpose of generating revenue....

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Data Protection & Privacy Policy

This policy document sets out how Unique collects, stores and uses the personal data you share with us, for example when you join us as members, fundraise for us, make...

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Equal Opportunities Policy

Introduction Unique – Rare Chromosome Disorder Support Group is fully committed to equality of opportunity and service provision and is opposed to all forms of unfair or unlawful discrimination. We...

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Disclaimer

This Web Site Copyright © Unique – The Rare Chromosome Disorder Support Group 2020 Although great care has been taken to ensure the accuracy of the information in this website,...

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Who we are

Our Aims In line with our Mission Statement above, we aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or...

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Support Us

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Professionals

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Families

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Registered Chromosome Disorders, Copy Number Variants & Gene Variants

Registered Chromosome Disorders, Copy Number Variants & Gene Variants Unique has the following rare chromosome disorders, copy number variants and single gene variants in its membership. When searching for a...

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Awareness Week

This year is the 6th Global Rare Chromosome Disorder Awareness Week which will run from Sunday 16th – Friday 21st June. #shinebrighttogether We want to celebrate and educate……shine bright together...

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Gift ideas and useful websites

By Unique’s Family Support Officer, Marion Mitchell. For those of you (like me) who find it hard to buy gifts for your chromosome/gene cutie, I have created this to help...

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Our History

Unique has been supporting, informing and networking families and individuals affected by a rare chromosome disorder since it was founded by Edna Knight MBE in the UK in 1984 as...

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Useful Links

Coming soon

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Forgot password

If you have forgotten your Unique member password, please enter your membership details, old username and new password in the boxes below and press the button labelled Set Password. This...

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Unique Family Members' Area Registration

If you have already joined Unique’s family membership, then you can access this family members-only area by completing all the details below. When entering your membership number, make sure to...

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Members

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Information

Keeping you informed Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down’s Syndrome. Unique also deals with...

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Funding Status

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Legal Status

Registered Charity Number: 1110661 Name: Rare Chromosome Disorder Support Group, a company limited by guarantee, also known as ‘Unique’ Company Registration Number: 5460413 Place of Registration: England and Wales Registered...

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News

My Genome Sequence animation from GOSH

Click on the arrow below to play a video which is a great new animation from Great Ormond Street Hospital and charity (GOSH). It will help you to discover what...

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2019 - The Year in Numbers

It’s been another very busy year for Unique – welcoming and helping more families than ever before, providing information and support about a wide range or rare chromosome and gene...

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National Conversation on Rare Disease: Make Sure Your Voice is Heard

The existing UK rare disease strategy finishes at the end of 2020. The government intends to produce a “rare disease framework” to follow on from this strategy to improve the...

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Improving mental health info & services for children with rare genetic conditions – Can you help?

Cerebra and Cardiff University are working on a project aimed at improving mental health information and services for children with rare genetic conditions. Cerebra are a national charity who work...

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Brand New Information Guides....

Just published and available free of charge, Information Guides to: 8p inverted duplication and deletion – click here to read and download 15q11.2 microduplications – click here Further Education, Training...

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Stay Calm Project - New Research Study

Emotional outbursts can be a particularly significant problem for individuals with neurodevelopmental disorders and/or intellectual disability. If you are a parent/carer of an individual between the ages of 6 and...

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A Unique Experience

At the end of June, a trainee genetic counsellor, Nezzy Evans, joined Unique for 2 weeks to learn more about what our charity does and how we fit in the...

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We are Recruiting!

Unique are seeking a new, part-time Information Officer (Family Support). You will help provide support and information to families living with Rare Chromosome and Gene disorders, act as a first...

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BINGO research study

BINGO stands for Brain and Behaviour In Neurodevelopmental disorders of Genetic Origin. BINGO is a research project involving researchers from the MRC Cognition and Brain Sciences Unit (MRC CBU), University...

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Bringing People Together

Friendships and support networks have been formed between Unique families across the world, often between families whose children have quite different chromosome and gene disorders. Click here to read about...

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FOXP2 Research Study

Please click here for details of a new research study looking at FOXP2 and in particular, the connections between genetic changes and speech and language in children and families. Note....

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The Unique Team Spreading the Word

Unique provides various services such as our helpline, numerous information guides and a magazine and we hold regular regional family social events. We also maintain various social media resources like...

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KBG Syndrome Family Day (UK)

Families in the UK who have a family member affected by KBG Syndrome are invited to a family day in Bristol on Saturday 13th July 2019 at Wills Memorial Building....

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Paydata: Target Smashed!

At the beginning of 2018, our friends at Paydata selected Unique as their ‘Charity of the Year’ and set about hitting the ambitious target of £5,000. One of their colleagues,...

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Gift Ideas and Useful Websites

Our Family Support Officer Marion has created a list of books, toys, websites, clothing and other items that we’ve heard about or Unique members have said their children like and...

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Understanding Conversation - XXX, XYY or XXY Syndromes

Researchers at the University of Oxford are exploring the difficulties some children can have in understanding conversation. In order to learn more about these communication problems, they are inviting families...

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#GivingTuesday2018

Giving Tuesday is the perfect antidote to the shopping craziness of Black Friday, a day to give something back and support a charity close to your heart. So far in...

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Jeans for Genes Day 2018....

This year, Unique will receive a grant from Jeans for Genes (Genetic Disorders UK) towards a Study Weekend for 16p11.2 deletions and duplications. For Jeans for Genes Day, one of...

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My Genome Sequence animation: Part 2 is out now....

The follow up to the animation My Genome Sequence explains some of the current limitations and uncertainties of genome sequencing.It’s a short follow-up animation, aimed at young people and is...

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This week is Chromosome & Gene Disorder Awareness Week....

It’s a week to shine a spotlight on all those special people affected by rare chromosome and gene disorders and their families. Running from June 17th-23rd, each day has a...

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The Law is Changing and we've Updated our Privacy Policy

Unless you’ve been in hibernation for the past few months, you’ll know that data protection law in the European Union (including the UK) changes on May 25th 2018 when the...

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Unique's range of free to download  'practical' guides for families

In addition to our Information Guides to specific rare chromosome and gene disorders, we now have a range of free to download practical guides for families. These are free to...

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IMAGINE ID: New Participants Urgently Needed

IMAGINE ID is collecting information about children and young adults with a genetic diagnosis related to learning disabilities. The study hopes to recruit 5,000 families worldwide and wants to answer...

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Data Protection Bill: Amendment for Patient Organisations

Together with our patron, Baroness Pauline Neville-Jones, we alerted the Government to the risk posed by new data protection laws (‘GDPR’), coming into force in May 2018, to the wealth...

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Paydata Ltd Supporting Unique

We were recently selected by UK-based reward management consultants Paydata Ltd. as their Charity of the Year. Staff held a vote but after a presentation given by Unique member Helen...

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New Guide for Young Family Carers

We’re pleased to publish our new family guide to support our young carers, who help with looking after a relative who has a rare chromosome or gene disorder. This is...

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Today's Shining Star

Our #shiningstar today is the adorable Theodore. “The day Theodore was born we knew he was unique. He struggled at the beginning and we were lost for a while because...

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People

Dr. Shwetha Ramachandrappa

Hello I am Shwetha.  I am a Consultant Clinical Geneticist based at Guys Hospital in London.  I graduated from Oxford Medical school in 2006 and completed my Specialist Training in...

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Francesca Wicks

I was thrilled to join the Unique team as a part-time Information Officer in August 2019. My role is to answer queries from families and professionals, provide information about specific...

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Sarah Wynn

Hi, I’m Sarah. I’m really pleased to have recently taken on the role of CEO of Unique, following Beverly’s well-earned retirement after many years of dedicated service. I’ve been involved...

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Ben Stern

I initially became involved with Unique shortly after my second daughter, India, was diagnosed with an unbalanced translocation (duplication 18q21.1 to qter, deletion 18p11.32). At the time she was three...

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Isobel Hindle

Following completion of my English degree at Durham University, I took a teachers’ training diploma. During the course of that training I had many weeks of student teaching experience some...

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Noni de Zoete

I am delighted to become involved with Unique. Our grand daughter Maya has a 10q26.1 deletion, and after her diagnosis at one month old, I contacted the charity. Beverly and...

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Sophie Sainty

My son Max has a duplication 9p23.1p13 and deletion 9p23.1p23.3) and I also have a younger daughter. Unique changed our lives when we were told shortly after his birth of...

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Anna Pelling

I was very happy to have been given the opportunity to join Unique in 2015 as one of the Information Officers. I help research, write and update Unique’s information guides...

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Helen Campbell

Hi , I’m Helen. My younger son Patrick had a profound speech and communication delay which lead him be tested at the age of 4 years in 2009. This found...

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Edna Knight MBE

I am Edna Knight, Unique’s Life President and a Trustee. I started the group with four families back in 1984 as the Trisomy 9 Support Group which subsequently became Unique....

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Craig Mitchell

I’m Unique’s Chief Operating Officer and work on fundraising, administration and infrastructure, basically anything to support the frontline staff as they deliver services to families and professionals. My background is...

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Beverly Searle BSc(Hons) PhD CBiol MRSB

Beverly recently retired as CEO of Unique after having been passionately involved with the charity since the birth of her daughter Jenny in 1990, first as a volunteer and since...

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Claire Andersen

I discovered Unique when my sister’s gorgeous youngest daughter, Tilly, was diagnosed with Tetrasomy 9p. While very little information was made available to her upon diagnosis, fortunately a friend of...

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Louise Jeffree

Hi there…. I’m Unique’s Finance Officer, having joined in April 2017. My background is in Compensation and Benefits within Human Resources so I have always enjoyed working with numbers! I...

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Disorder Guides

15 Idic 15 German

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7q36 Deletionen German

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6q Deletionen 6q15 Bis 6q23 German

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4q Deletions Between 4q21 And 4q22 German

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3p- Deletionssyndrom German

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2q23.1 Mikrodeletions-Syndrom German

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22 Ringchromosom German

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20p Duplikationen German

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1q4 Von 1q42 Deletion An German

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1q21.1 Mikroduplikationen German

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1q21 Mikrodeletionen German

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18 Ringchromosom 18 German

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15q11.2 Mikrodeletionen

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13q Verschiedene Deletionen German

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9 Trisomie 9 Mosaik German

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11q Deletion Disorder Jacobsen Syndrome German

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Triple_X_Danish

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Mikroarray-baseret Komparativ Genomisk Hybridisering Danish

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1p36 Deletion Chinese

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Array CGH Arabic

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2q23.1 Microdeletion Syndrome Arabic

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16p11.2 Microdeletions Arabic

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XYY Study Day Report

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XXX Study Day Report

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Pallister Killian Syndrome Study Weekend Report

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Kleefstra Syndrome Study Weekend Report

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8p23 Deletions And Inv Dup Del 8p Study Weekend Report

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8 Trisomie 8 Mosaik German

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9p Duplikationen Auf 9p German

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2q37 Deletion Study Weekend Report

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16p13.11 Microduplicaciones Spanish

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22q13 deletions Phelan-McDermid syndrome Spanish

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22q11.2 Microduplicaciones Spanish

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1q21.1 Microduplicaciones Spanish

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1q21.1 Microdeleciones Spanish

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1q Deleciones 1q42 Y Mas Alla Spanish

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1p36 Sindrome Delecion Spanish

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18q Deletions From 18q21 And Beyond Spanish

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18q Deleciones Del 18q11.2 Al 18q21.2 Spanish

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18p Delecion Spanish

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17q21.31 Microdeleciones Spanish

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17q12 Microduplicaciones Spanish

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17q12 Microdeleciones Spanish

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16p11.2 Microdeleciones Spanish

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Array CGH German

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15q11.2 Microdeletions Spanish

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11q El Trastorno Por Supresion Terminal Sindrome De Jacobsen Spanish

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10q25 Y10q26 Deleciones Spanish

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X_Pentasomie_German

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XYY German

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Trisomie_X_German

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SOX11 Syndrome German

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Robertsonsche Translokationen German

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Pallister-Killian Syndrome German

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Koolen-De Vries Syndrome German

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Kleine Uberzahlige Markerchromosomen German

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Duplikationen Und Mikroduplikationen German

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Deletionen Und Mikrodeletionen German

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4q Deletions Study Weekend Report

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1p36 Study Day Report

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2q23.1 Sindrome De Microdelecion En 2q23 1 Spanish

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22q12q13 Duplications

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Triple_X_syndrome Trisomy_X

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Tetrasomy_X

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Pentasomy_X

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Norrie Disease

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MED12 Related Disorders

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IQSEC2-related Disorder

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Disclosing_about_XXX_for_parents

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Disclosing_about_XXX_for_girls

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DDX3X Syndrome

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Ring 22

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Cat Eye Syndrome CES

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22q13 Deletions Phelan McDermid Syndrome

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22q11.2 Microduplications

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XXXXY Syndrome

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22q11.2 Distal Deletion Syndrome

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22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome)

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Ring 21

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DYRK1A and 21q22.13 deletion syndrome

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21q Deletions

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Ring 20

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Bohring-Opitz Syndrome (BOS)

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ADNP Related Syndrome

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20q13.33 Deletions

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20p Duplications

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20p Deletions

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19p13.3 Microdeletions

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19p13.2 Microdeletions

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X Inactivation

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XXXY Syndrome

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Unique Guide Production

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Deletions And Microdeletions

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Uniparental Disomy UPD

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Unbalanced Translocations

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Triploidy

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Triploid Pregnancies

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Small Supernumerary Marker Chromosomes (sSMCs)

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Robertsonian Translocations

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Planning Your Next Child

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Inversions

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Duplications And Microduplications

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Diploid Triploid Mosaicism

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Diploid Triploid Children

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DNA Sequencing (whole Genome And Exome)

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XXYY Syndrome

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Balanced Translocations

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Balanced Insertional Translocations

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Array CGH

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A Clinical Genetics Appointment

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4q- Parents Perspective

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XYYY Syndrome

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XYY Living With XYY

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Disclosing_about_XYY_for_boys

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Disclosing_about_XYY_ For_parents

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45X 46XY Including Y Chromosome Rearrangements

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Xq28 Duplications

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Xp11.2 Duplications

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2p16 3 Delecion 2p16 3 (NRXN1) Spanish

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3p25 Deleciones 3p25 Tambien Llamadas 3p- (Menos) Spanish

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19p13.12 Microdeletions

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Pentasomie_X

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Inversions Greek

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Balanced Translocations Greek

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Array CGH Greek

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XXYY_French

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XXXY_syndrome_French

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XXXXY_syndrome_French

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Uniparental Disomy 14 French

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Trisomy 5p Inverted Duplication Deletion Of 5p FRENCH

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Translocations Robertsoniennes French

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Translocations Equilibree French

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Tetrasomie_X

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Syndrome De Koolen-de Vries French

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Isochromosome 18p French

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18p La Delezione Del Cromosoma 18p Italian

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Insertions Chromosomique Equilibree French

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Hybridation Genomique Comparative Sur Puces (puces A ADN) French

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Duplications 7q Entre 7q21 Et 7q36 French

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Délétions 4q Depuis 4q31 Et Au Delà

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DDX3X Syndrome French

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BOS Syndrome Fench

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9p Deletions French

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9 Trisomie 9 En Mosaique

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8q Duplications French

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8p23 Deletions French

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8p Les Duplications 8p French

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8 Trisomie 8 En Mosaique French

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7q36 Deletions French

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XYY Greek

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18q Delezioni Distali Del Cromosoma Italian

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6q Deletions 6q De 6q26 A 6q27 Francais

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19p13 2 Microdeleties Dutch

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4q Duplicaties Dutch

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3q29 Deleties Dutch

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3p26 Deleties

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3p Duplicaties Dutch

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2q37 Deletions Adults Adolescents

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2p16 3 (NRXN1) Deleties Dutch

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2p15p16 1 Microdeletie Syndroom Dutch

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Phelan-McDermid syndroom: 22q13 deleties

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22q11 2 Microduplicaties Dutch

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1q21.1 Microdeleties Dutch

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1q21 1 Microduplicaties Dutch

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1p36 Deletie Syndroom Dutch

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16p13 11 Microdeleties Dutch

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Condizioni Mediche Collegate Al Gene SCN2A

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16p11.2 Microduplicaties Dutch

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16p11 2 Microdeletie Dutch

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15q26 Deleties Dutch

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15q13.3 Microduplicaties Dutch

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15q13 3 Microdeletie Syndroom Dutch

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15q11.2 Microdeleties Dutch

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11q Terminale Deletie 11q Jacobsen Syndroom

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ANKRD11 And KBG Syndrome Korean

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Ring 18 Italian

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La Sindrome Di Bohring-Opitz (BOS)

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Idic15 Italian

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Ibridazione Genomica Comparativa Italian

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Delezione Prossimale Del Braccio Lungo Del Cromosoma 18 Dalla Posizione Q11.2 Alla Posizione Q21.2

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7q11.23 Syndrome Duplicationnel 7q11.23 French

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6p Deletions French

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3p26 Deleciones

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Duplicaciones Xq28 Spanish

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Translocaciones Equilibradas Spanish

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Tetrasomia 9p SPANISH

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Sindrome Relacionado Al Gen PACS1

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Sindrome De La Delecion 2q37 Spanish

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Sindrome De Microdelecion 15q13.3 Spanish

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Sindrome De Kleefstra Spanish

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Ring 18 Spanish

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Idic 15 Spanish

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Hibridacion Genomica Comparada Por Microarray Microchip Array Chip De CGH Spanish

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Floating-Harbor Syndrome Spanish

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Emanuel Syndrome Spanish

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Duplicaciones And Microduplicaciones Spanish

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Disorders Of STXBP1 Spanish

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Trisomia 8 En Mosaico Spanish

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Deleciones Y Microdeleciones Spanish

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Cromosoma 13 En Anillo Spanish

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9q Deleciones 9q Incluyendo 9q33 Spanish

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9p Duplicaciones

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9 Mosaicismo De Trisomia 9 Spanish

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8p23 Delecion Spanish

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7q11.23 Microduplicacion Spanish

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7q Duplicaciones Spanish

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6q11q16 Deleciones Spanish

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5q Deleciones Que Incluyen 5q22

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4q Deletions Between 4q21 And 4q22 Spanish

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45X 46XY Incluyendo Reorganizaciones Del Cromosoma Y Spanish

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3q29 Deleciones Y Microdeleciones Spanish

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Triple_X_Spanish

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XXXXY Syndrome Spanish

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5q22 Deletions Incluant La Region 5q22 French

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1q23.3 Microdeletions French

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4p Duplications French

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3qDuplications 3q French

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3q29 Deletions Et Microdeletions French

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3p25 Deletions French

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2q37 Deletions French

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2q32 Deletions Et MicroDeletions French

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22q13 deletions Phelan-McDermid syndrome French

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22 Chromosome 22 En Anneau French

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21q Deletions French

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21 Chromosome 21 En Anneau French

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2 Chromosome 2 En Anneau French

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1q4 Deletions French

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1q21.1microduplications

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XXXY Syndrome Spanish

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1p36 Syndrome De La Deletion 1p36 French

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18 Chromosome 18 En Anneau French

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17p Duplications French

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15q11q13 Duplications FRENCH

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15q Duplications French

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15 Idic (15) French

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15 Chromosome 15 En Anneau French

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14 Chromosome 14 En Anneau French

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13q Deletions De La Region 13q Terminale French

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13 Chromosme 13 En Anneau French

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12 Le Syndrome De Pallister Killian French

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11 La Deletion 11q Terminale (syndrome De Jacobsen)

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10q26 Deletions French

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19p13.13 Microdeletions

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Ring 18

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1q21.1 Microdeletions

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2q13 Microdeletions

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2q Duplications

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2p16.3 (NRXN1) Deletions

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2p15p16.1 Microdeletion Syndrome

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2p Duplications

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2p Deletions

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Supernumerary Ring Chromosome 1

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MPPH Syndrome

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GATAD2B-associated neurodevelopmental disorder (GAND) GATAD2B syndrome

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1q4 deletions from 1q42 and beyond

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1q23.3microdeletion

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1q21.1 Microduplications

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1q Duplications

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2q23.1 Microdeletion Syndrome

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1p36 Deletions

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1p Interstitial Deletions

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2q13 Microduplications

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2q24.3 Microdeletions

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3q29 Duplications And Microduplications

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5p Trisomy 5p Inverted Duplication And Deletion Of 5p

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Wolf-Hirschhorn Syndrome (4p16.3 deletions)

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4q Duplications

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4q Deletions From 4q31and Beyond

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4q Deletions Between 4q21and 4q31

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4q Deletions Between 4q21 And 4q22

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4q Deletions Between 4q11 And 4q22

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4p Duplications

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4p 8p Translocation

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SETD5

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CTNNB1 syndrome

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3q29 Deletions And Microdeletions

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3q13 Deletions And Microdeletions

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2q32 Deletions And Microdeletions

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3q Duplications

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3p26 Deletions

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3p25 Deletions

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3p Duplications

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SOX11 Syndrome And 2p25.2 Deletions

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SCN2A Related Conditions

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SATB2 Syndrome (Glass syndrome)

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Ring 2

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MYT1L syndrome (MYT1L variants and 2p25.3 deletions)

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KIF1A

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2q37 Deletions In Adults And Adolescents

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2q37 Deletion Syndrome

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2q33.1 Deletions And Other Deletions Between 2q31 And 2q33

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5p Trisomy Duplications Of 5p13 And 5p14

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5p Trisomy 5p Microduplications Of 5p13 5p14

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5p Trisomy Duplications Of The Whole 5p Arm

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Isochromosome 18p

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14q Deletions Proximal To 14q22

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15q13.3 Microdeletion Syndrome

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15q11q13 Duplications

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15q11.2 Microduplications

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15q11.2 Microdeletions

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15q Duplications

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Uniparental Disomy 14

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Trisomy 14 Mosaicism

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Ring 14

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14q13 Deletions

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14q12 Deletions

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14q11.2 Deletions

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14q Distal Duplications

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14q Deletions From 14q32.2 And 14q32.3

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15q24 Microdeletion Syndrome

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14q Deletions From 14q31 And 14q32

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14q Deletions Between 14q22 And 14q32

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Ring 13

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13q Distal Interstitial Deletions

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13q Deletions Various

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13q Deletions Including The End Of 13q

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13q Deletions Including RB1

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SOX5 Syndrome Lamb Shaffer Syndrome 12p12 Deletions

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Pallister-Killian Syndrome

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GRIN2B-related neurodevelopmental disorder

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Cantu Syndrome

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12q14 Microdeletions

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12q Deletions

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15q13.3 Microduplications

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15q26 Deletions

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PACS1 Related Syndrome

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Trisomy 16 Mosaic

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GATA6

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18q Deletions From 18q21 And Beyond

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18q Deletions From 18q11.2 To 18q21.2

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18p Deletions

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Koolen-de Vries Syndrome Study Weekend Report

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Koolen-De Vries Syndrome

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17q21.31 Duplications

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17q12 Microduplications

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17q12 Microdeletions

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17p13.3 Microdeletions

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17p13.1 And 17p13.2 Microdeletions

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17p Duplications

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Floating-Harbor Syndrome

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Idic(15)

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ANKRD11 And KBG Syndrome

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16q Proximal Duplications

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16q Deletions

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16p13.3 Duplications And Microduplications

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16p13.11 Microduplications

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16p13.11 Microdeletions

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16p13 Deletions

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16p12.2 Deletions

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16p11.2 Microdeletions

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16p11.2 Microduplications

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16p Proximal Deletions

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16p Duplications

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Ring 15

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12p Duplications

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Emanuel Syndrome

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5q Deletions Including 5q22

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Duplications Of 6p

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8p Duplications

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8p Inverted Duplication Deletion

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FOXP2 Syndrome

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7q36 Deletions

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7q32q34 Deletions

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7q21.11 Microdeletions

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7q11.23 Duplication Syndrome

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7q Deletions Proximal Interstitial

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7q Deletions Between 7q21 And 7q32

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7q Duplications

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SYNGAP1 Syndrome

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Duplications Of 6q

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Deletions From 6p25 And The End Of The Chromosome

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8p23 Deletions

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ARID1B Syndrome

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6q Deletions From 6q26 And 6q27

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6q Deletions From 6q25

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6q Deletions From 6q23 To 6q24

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6q Deletions 6q15 To 6q23

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6q Deletions 6q13 To 6q14

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6q Deletions 6q11 To 6q16

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6p Deletions

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Trisomy 5p Duplications Of 5p15

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PURA And 5q31

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MEF2C haploinsufficiency syndrome

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5q35 Duplications

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5q14.3 Deletions

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8p Interstitial Deletions Including 8p12

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8p23 Duplications

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11q Deletion Disorder Jacobsen Syndrome

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Ring 9

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11 22 Translocation

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WAC Syndrome (DeSanto-Shinawi Syndrome)

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Say-Barber-Biesecker Syndrome

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KIF11 Associated Disorder

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10q25 And 10q26 Deletions

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Deletions between 10q22 and 10q24

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10q Duplications

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10p Proximal Deletions From 10p11 And 10p12

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10p Duplications

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10p Deletions

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Trisomy 9 Mosaicism

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Tetrasomy 9p

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Kleefstra Syndrome And Mental Health

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8q Duplications

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Kleefstra Syndrome

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Disorders Of STXBP1

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9q34 Duplication Syndrome

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9q Deletions Including 9q33

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9p24 Deletions

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9p Deletions

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9p Coexisting Duplication And Deletion

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9p Duplications

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Trisomy 8 Mosaicism In Adults

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Trisomy 8 Mosaicism

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Supernumerary Chromosome 8

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PUF60-related developmental disorder (Verheij syndrome)

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KAT6A Syndrome

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6p Deleties Vanaf 6p25 Dutch

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