Understanding Rare Chromosome and Gene Disorders

Search Results for: duplication 17

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Glossary

...are arranged as a ‘mirror image’ of each other. Isochromosome formation involves a chromosome duplication and deletion. The extra arm in the new chromosome is a duplication and the arm...

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Families

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Professionals

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Join Us

...Town/City County/State/Province Postcode/Zip Country Chromosome/gene and type of disorder e.g. deletion, duplication, variant Tell us more Please tick this box if you are happy for us to contact you to...

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News

Study on 16p11.2 deletion or duplication and 22q11.2 deletion or duplication

...and the University of Manchester and we are interested in the experiences of children with 16p11.2 deletion or duplication and 22q11.2 deletion or duplication. This study will enable us to...

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New Research Study: Children with 3q29 deletion or duplication

...with 3q29 deletion or duplication About our study We are a research team based across University College London and Cardiff University and we are interested in the experiences of individuals...

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Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE 2)

...2p16.3 (NRXN1)deletion, 3q29 deletion or duplication, 9q34 deletion (EHMT1), 15q11.2 deletion or duplication, 15q13.3 (CHRNA7) deletion or duplication, 15q11-q13 deletion or duplication, 16p11.2 deletion or duplication, 22q11.2 deletion or duplication...

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Sensory Profiles in Rare Genetic Syndromes

Take part in research from home! If you are a parent or caregiver of a child aged 3-14 years old with: Sotos syndrome Tatton-Brown Rahman syndrome 16p11.2 duplication syndrome 16p11.2...

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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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Martina & Lucy

Meet Lucy and her Mum, Martina! Lucy has a 10q26.3 deletion and 2q35 duplication. Martina says, “Lucy is an absolute joy. She is a wonderful little girl. She is so...

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People

Marion Mitchell

...inverted duplication 15pterq14 (more widely known as isodicentric or idic 15). In 1996 (pre-internet) I became Information Officer for the group, hand-writing letters to newly joining families; at that time...

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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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Edna Knight MBE

...duplication of short arm of chromosome 9. Claire, who is Jack’s Mum, has a balanced insertional translocation like myself. Wendy is 52, attends a Skills Development Centre and does work...

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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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Gillian Manvell

...was born with an unbalanced translocation (deletion 10p13pter/duplication 5q35.2qter) and I discovered that I carry a 5q;10p balanced reciprocaltranslocation. I contacted Edna and was met with great kindness and patience....

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Disorder Guides

8p Inverted Duplication Deletion

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9p Coexisting Duplication And Deletion

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Inverted duplication & deletion of 8p FRENCH

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8p Inverted duplication deletion Russian

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Trisomy 5p Inverted Duplication Deletion Of 5p FRENCH

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Inverted duplication & deletion of 8p Spanish

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9p Coexisting Duplication and Deletion Russian

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Inverted duplication & deletion of 8p Polish

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9q34 Duplication Syndrome

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7q11.23 Duplication Syndrome

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

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9p Duplication Syndrome My Chromosome Story

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Duplication en 16p

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7q11.23 duplication syndrome Dutch

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7q11.23 duplication syndrome Polish

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7q11.23 duplication syndrome Portuguese

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8p Inverted Duplication Deletion Portuguese

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9p duplication syndrome My Chromosome Story French

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