Prenatal diagnosis of 13q- syndrome in a fetus with holoprosencephaly and thumb agenesis

Ultrasound Obstet Gynecol. 2001 Feb;17(2):166-8. doi: 10.1046/j.1469-0705.2001.00335.x.

Abstract

Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Clubfoot / diagnostic imaging
  • Female
  • Fetal Death
  • Holoprosencephaly / diagnostic imaging*
  • Humans
  • Polyhydramnios
  • Pregnancy
  • Thumb / abnormalities*
  • Thumb / diagnostic imaging
  • Ultrasonography, Prenatal*