Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome

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...

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Veröffentlicht in:	American journal of medical genetics 1996-03, Vol.62 (3), p.274-275
Hauptverfasser:	Fryburg, Julie S., Lin, Kant Y., Golden, Wendy L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences chromosome 22q11.2 deletion Chromosome Deletion Chromosomes, Human, Pair 22 Complex syndromes G/BBB syndrome Humans Infant Male Medical genetics Medical sciences Opitz syndrome Smith-Lemli-Opitz Syndrome - genetics Smith-Lemli-Opitz Syndrome - physiopathology velocardiofacial syndrome
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Zusammenfassung:	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. © 1996 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H