Understanding Rare Chromosome and Gene Disorders

Search Results for: duplication 17

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Glossary

...details). Microduplication a small duplication of DNA, usually less than 500,000 base pairs and not visible by chromosome staining (see deletion for further details). Missense describes a gene variant that...

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Families

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Professionals

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News

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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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

...a partial 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...

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Sophie Sainty

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

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Gillian Manvell

In 1983 my partner, Peter, and I first met as founder members of a company designing technology for schools; 30 years later we still run the company. In 1990 our...

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Disorder Guides

9p Coexisting Duplication And Deletion

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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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9p Coexisting Duplication and Deletion Russian

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9q34 Duplication Syndrome

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8p Inverted Duplication Deletion

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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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