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...

Families

Professionals

Join Us

...pregnant and have received a prenatal diagnosisA family member has the conditionOther (please specify) Email Phone Address Town/City County/State/Province Postcode/Zip Country Chromosome/gene and type of disorder e.g. deletion, duplication, variant...

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...

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...

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...

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...

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...

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...

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...

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...

Edna Knight MBE

...and Julie have a partial duplication of short arm of chromosome 9. Claire, who is Jack’s mum, has a balanced insertional translocation like myself. Wendy is 58, she attends a...

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...

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....

8p Inverted Duplication Deletion

9p Coexisting Duplication And Deletion

Duplication en 16p

9p Duplication Syndrome My Chromosome Story

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

7q11.23 Duplication Syndrome

9q34 Duplication Syndrome

Inverted duplication & deletion of 8p FRENCH

9p Coexisting Duplication and Deletion Russian

Inverted duplication & deletion of 8p Spanish

Inverted duplication & deletion of 8p Polish

Trisomy 5p Inverted Duplication Deletion Of 5p FRENCH

8p Inverted duplication deletion Russian

9p duplication syndrome My Chromosome Story French

8p Inverted Duplication Deletion Portuguese

7q11.23 duplication syndrome Portuguese

7q11.23 duplication syndrome Dutch

7q11.23 duplication syndrome Polish