Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)

Clin Dysmorphol. 2007 Jul;16(3):177-179. doi: 10.1097/MCD.0b013e3281e668bf.

Abstract

A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11 / genetics*
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics*
  • Humans
  • Monosomy
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome