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

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

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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 hybridization (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.

Original languageEnglish (US)
Pages (from-to)32-36
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume70
Issue number1
DOIs
StatePublished - May 2 1997

Keywords

  • Ullrich-Turner syndrome
  • VACTERL
  • X inactivation
  • XIST
  • mosaicism
  • prune-belly syndrome
  • ring X

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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