Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24)

Clin Genet. 1987 Sep;32(3):169-71. doi: 10.1111/j.1399-0004.1987.tb03348.x.

Abstract

A child with multiple anomalies, including growth retardation, a left-sided diaphragmatic hernia with lung hypoplasia, and cerebral malformations is described. Cytogenetic investigation demonstrated a deletion of the distal part of one chromosome 15, del(15)(q24qter), an aberration not previously described. Family studies revealed that the mother had a balanced translocation, t(6;15)(p25;q24). Two of her subsequent pregnancies resulted in abortions after prenatal diagnosis: one fetus was trisomic for 15q24----qter, while the other had monosomy 15q24----qter and a left-sided diaphragmatic hernia similar to the first child.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 6*
  • Hernia, Diaphragmatic / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Monosomy*
  • Translocation, Genetic*
  • Trisomy*