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Am J Med Genet. 1991 Aug 1;40(2):173-6.

Apparent Opitz BBBG syndrome with a partial duplication of 5p.

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  • 1Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23501.

Abstract

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

PMID:
1897571
DOI:
10.1002/ajmg.1320400210
[PubMed - indexed for MEDLINE]
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