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J Med Genet. 1979 Jun;16(3):225-6.

Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis.

Abstract

A 48,XXYY Sardinian patient, born to a 46,XX mother heterozygous for the Gd Mediterranean mutant, and to a 46,XY father hemizygous for the same mutant, was found to have a mosaic distribution of G6PD(+) and G6PD(-) peripheral red blood cells. The most likely interpretation of this finding is that the propositus is an additional example of an XXYY zygote derived from a consecutive meiotic non-disjunction during paternal gametogenesis.

PMID:
469902
[PubMed - indexed for MEDLINE]
PMCID:
PMC1012697
Free PMC Article
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