Concurrent microdeletion and duplication of 22q11.2
✍ Scribed by E Blennow; K Lagerstedt; H Malmgren; S Sahlén; J Schoumans; BM Anderlid
- Book ID
- 110888610
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 357 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0009-9163
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Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variab
entitled ''Co-occurrence of Chromosome 22q11.2 Microdeletion and Trisomy 21 Mosaicism.'' We thank the authors for their informative remarks about this association, but would like to point out that we definitely do not recommend investigating for chromosome 22q11.2 microdeletion (del22q11.2) in all c