Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

Am J Med Genet. 2000 Jan 17;90(2):120-2. doi: 10.1002/(sici)1096-8628(20000117)90:2<120::aid-ajmg6>;2-r.


Congenital diaphragmatic hernia (CDH) is a relatively common malformation of unknown cause with high mortality due to hypoplasia of the lungs and pulmonary hypertension. We studied a family in which two fetuses had CDH, and two pregnancies resulted in first trimester missed abortions. Both fetuses with CDH had an apparently normal karyotype. In a subsequent pregnancy, fluorescent in situ hybridization analysis of amniocytes showed a balanced translocation 46,XY, t(5;15) (p15.3;q24) also present in the mother and in a normal child, suggesting that the diaphragmatic hernia in the first two fetuses was caused by a cryptic unbalanced translocation. This hypothesis is supported by a previous observation of CDH in a distal deletion of 15q as part of a multiple congenital anomalies syndrome. It is suggested that a gene distal to 15q21 is important for the normal development of the diaphragm.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Induced
  • Adult
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 5*
  • Female
  • Fetal Death
  • Hernia, Diaphragmatic / genetics
  • Hernias, Diaphragmatic, Congenital*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pregnancy
  • Translocation, Genetic*