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Am J Hum Genet. 1976 May;28(3):203-7.

Inversion homozygosity of chromosome no. 9 in a higly inbred kindred.

Abstract

A pericentric inversion of chromosome no. 9 was present in seven of 10 members of a highly inbred kindred investigated; two were inversion homozygotes and five were heterozygotes. Inversion homozygosity was observed in both the propositus, ascertained because of ambiguous genitalia, and his phenotypically normal father. A phenotypically normal sister and brother with similar clinical findings proved to be inversion heterozygotes. These findings conclude that no causal relationship exists between the inversion and the abnormal phenotype.

PMID:
233959
PMCID:
PMC1685013
[Indexed for MEDLINE]
Free PMC Article
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