Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients

Am J Med Genet. 1993 Mar 15;45(6):761-3. doi: 10.1002/ajmg.1320450619.

Abstract

Cloacal exstrophy, unilateral renal agenesis, and Müllerian anomalies occurred in a liveborn infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple-X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Anus, Imperforate / genetics
  • Cloaca / abnormalities*
  • Female
  • Hernia, Umbilical / genetics
  • Humans
  • Infant
  • Kidney / abnormalities
  • Ovary / abnormalities
  • Trisomy*
  • Urogenital Abnormalities*
  • Uterus / abnormalities
  • X Chromosome*