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

19 Citations (Scopus)

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

Fingerprint

Prune Belly Syndrome
Ring Chromosomes
X Chromosome
Fetus
Single Umbilical Artery
Urethral Obstruction
X Chromosome Inactivation
Turner Syndrome
Superior Vena Cava
Cardiomegaly
Fluorescence In Situ Hybridization
Karyotype
Skeleton
Intellectual Disability
Extremities
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. / Guillén, David R.; Lowichik, Amy; Schneider, Nancy R.; Cohen, Debra S.; Garcia, Sarah; Zinn, Andrew R.

In: American Journal of Medical Genetics, Vol. 70, No. 1, 02.05.1997, p. 32-36.

Research output: Contribution to journalArticle

Guillén, David R. ; Lowichik, Amy ; Schneider, Nancy R. ; Cohen, Debra S. ; Garcia, Sarah ; Zinn, Andrew R. / Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. In: American Journal of Medical Genetics. 1997 ; Vol. 70, No. 1. pp. 32-36.
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