title: Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908, USA.
authors.forename: J S
authors.initials: JS
authors.lastname: Fryburg
authors.forename: K Y
authors.initials: KY
authors.lastname: Lin
authors.forename: W L
authors.initials: WL
authors.lastname: Golden
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007223:Infant; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics* / Q000503:physiopathology