Chromosome 22q11.2 deletion in a boy with Opitz (G...[Am J Med Genet. 1996]

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1: Am J Med Genet. 1996 Mar 29;62(3):274-5.Links

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

Fryburg JS, Lin KY, Golden WL.

Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908, USA.

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.

PMID: 8882786 [PubMed - indexed for MEDLINE]

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.
Am J Med Genet A. 2007 Dec 15; 143A(24):3302-8.

[Am J Med Genet A. 2007]
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
Am J Med Genet. 1995 Oct 23; 59(1):103-13.

[Am J Med Genet. 1995]
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
Genet Med. 2001 Jan-Feb; 3(1):23-9.

[Genet Med. 2001]
Review22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes.
Curr Opin Pediatr. 2001 Oct; 13(5):465-72.

[Curr Opin Pediatr. 2001]
ReviewDiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.
Adv Exp Med Biol. 2007; 601:37-49.

[Adv Exp Med Biol. 2007]
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Cited by 2 PubMed Central articles

ReviewAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, et al. Genet Med. 2008 Jul; 10(7):469-94.

[Genet Med. 2008]
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.
Short KM, Hopwood B, Yi Z, Cox TC. BMC Cell Biol. 2002; 3:1. Epub 2002 Jan 4.

[BMC Cell Biol. 2002]

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