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Autosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletion

✍ Scribed by McDonald-McGinn, Donna M. ;Driscoll, Deborah A. ;Bason, Lynn ;Christensen, Katherine ;Lynch, David ;Sullivan, Kathleen ;Canning, Douglas ;Zavod, William ;Quinn, Norman ;Rome, Jonathan ;Paris, Yvonne ;Weinberg, Paul ;Clark, Bernard J. ;Emanuel, Beverly S. ;Zackai, Elaine H.

Book ID
102701608
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
1001 KB
Volume
59
Category
Article
ISSN
0148-7299

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Opitz GBBB syndrome and the 22q11.2 dele
Opitz GBBB syndrome and the 22q11.2 deletion
✍ Lacassie, Yves; Arriaza, Marta I. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

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

Chromosome 22q11.2 deletion in a boy wit
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
✍ Fryburg, Julie S.; Lin, Kant Y.; Golden, Wendy L. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

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