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Article

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

29 Mar 1996

Abstract excerpt

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.

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Identifiers

PMID: 8882786
DOI: 10.1002/(sici)1096-8628(19960329)62:3<274::aid-ajmg13>3.0.co;2-h

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Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndromePMID 8882786Read ↗

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

Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22Q and a review of the literatureSemantic proximity Read ↗

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

A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients.Semantic proximity Read ↗

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Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.Semantic proximity Read ↗

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.Semantic proximity Read ↗

Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronymSemantic proximity Read ↗

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