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

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 fra...

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Bibliographic Details
Published in:Journal of medical genetics 1987-05, Vol.24 (5), p.299-299
Main Authors: Maltby, E L, Higgins, S
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome aberrations
Chromosome Deletion
Chromosome Fragile Sites
Chromosome Fragility
Chromosomes, Human, Pair 10
Folic Acid - metabolism
Humans
Medical genetics
Medical sciences
Mosaicism
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.24.5.299