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Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lackingXIST

✍ Scribed by Guillén, David R.; Lowichik, Amy; Schneider, Nancy R.; Cohen, Debra S.; Garcia, Sarah; Zinn, Andrew R.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
480 KB
Volume
70
Category
Article
ISSN
0148-7299

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✦ Synopsis

Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.

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