Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H·
OSTI ID:426143
- Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)
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 this child is not usually seen in VCF syndrome. Opitz syndrome maps to at least two loci, one on Xp, the other on 22q11.2. 12 refs., 2 figs.
- OSTI ID:
- 426143
- Journal Information:
- American Journal of Medical Genetics, Vol. 62, Issue 3; Other Information: PBD: 29 Mar 1996
- Country of Publication:
- United States
- Language:
- English
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