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46, X,X-X terminal rearrangement /45, X mosaicism in a child with short stature

✍ Scribed by D. M. O. Becroft; J. M. Costello; R. L. Shaw


Book ID
119838560
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
466 KB
Volume
11
Category
Article
ISSN
0009-9163

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Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)

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A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes