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J Med Genet. 1987 May;24(5):299.

Folate sensitive site at 10q23 and its expression as a deletion.

Abstract

A patient is reported for whom initial chromosome analysis indicated 45,X/46,XX/46,XX,10q- mosaicism. The clinical findings included hypothyroidism and a low red cell folate estimation. The deleted chromosome 10 was subsequently shown to be an extreme expression of the folate sensitive heritable fragile site at 10q23, and a possible association between this and the in vivo folate status of the patient is suggested.

PMID:
3585944
PMCID:
PMC1050055
[Indexed for MEDLINE]
Free PMC Article
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