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Article

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

23 Oct 1995

Abstract excerpt

We report on a family with autosomal dominant paternally inherited "Opitz" GBBB syndrome and an additional case with findings which have been reported in that syndrome. In each case the propositus presented with a vascular ring. Since a vascular ring may be a sign of a 22q11.2 deletion [Zacki et al., 1995], FISH (fluorescence in situ hybridization) studies were performed. These studies demonstrated a 22q11.2...

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Identifiers

PMID: 8849001
DOI: 10.1002/ajmg.1320590122

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Autosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletionPMID 8849001Read ↗

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndromeSemantic proximity Read ↗

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A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome.Semantic proximity Read ↗

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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2Semantic proximity Read ↗

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patientsSemantic proximity Read ↗

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!Semantic proximity Read ↗

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