This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in th
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome
โ Scribed by Brooks, John K.; Leonard, Claire O.; Zawadzki, Joanna K.; Ommaya, Ayub K.; Levy, Bernard A.; Orenstein, Jan M.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 29 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19981116)80:3<291::aid-ajmg23>3.0.co;2-r
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Letter to the Editor ## Opitz GBBB Syndrome and the 22q11.2 Deletion To the Editor: Recently, McDonald-McGinn et al. [1995] reported the presence of a deletion 22q11.2 in a family with autosomal dominant inheritance and in a sporadic case with the Opitz GBBB syndrome.The presence of a vascular r
We report on a 15-year-old compound heterozygous young woman with fragile X syndrome who has a full mutation of 363 repeats on one X chromosome and a premutat i o n o f 1 0 3 r e p e a t s o n t h e o t h e r X chromosome. As predicted, subsequent testing demonstrated that her father carries a premu