Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities

Clin Genet. 1997 Aug;52(2):96-9. doi: 10.1111/j.1399-0004.1997.tb02525.x.

Abstract

We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Aberrations / diagnostic imaging*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics
  • Esophageal Atresia / diagnostic imaging
  • Esophageal Atresia / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Monosomy*
  • Polyhydramnios / diagnostic imaging
  • Pregnancy
  • Translocation, Genetic / genetics
  • Trisomy*
  • Ultrasonography, Prenatal
  • Umbilical Arteries / ultrastructure