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

A Aviram-Goldring1, M Daniely, M Frydman

  • 1Genetic Institute, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel.

American Journal of Medical Genetics
|December 23, 1999
PubMed

Insights

Congenital diaphragmatic hernia (CDH) in a family was linked to a cryptic unbalanced translocation. A gene on chromosome 15q may be crucial for diaphragm development.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Congenital diaphragmatic hernia (CDH) is a significant congenital malformation with high mortality.
  • The etiology of CDH is largely unknown, often involving lung hypoplasia and pulmonary hypertension.
  • Previous studies suggest a link between CDH and chromosomal abnormalities, including 15q deletions.

Purpose of the Study:

  • To investigate the genetic cause of CDH in a family with recurrent fetal anomalies.
  • To identify potential chromosomal abnormalities contributing to diaphragmatic development defects.

Main Methods:

  • Karyotyping of affected fetuses with CDH.
  • Fluorescent in situ hybridization (FISH) analysis of amniocytes in a subsequent pregnancy.
  • Segregation analysis of identified chromosomal translocation in family members.

Main Results:

  • Two fetuses presented with CDH, and two pregnancies ended in missed abortions.
  • Initial karyotyping of CDH fetuses showed normal results.
  • FISH analysis revealed a balanced translocation t(5;15)(p15.3;q24) in a subsequent pregnancy, also present in the mother and a healthy sibling, suggesting a cryptic unbalanced translocation caused CDH in affected fetuses.

Conclusions:

  • A cryptic unbalanced translocation involving chromosomes 5 and 15 is implicated in CDH in this family.
  • The findings support the hypothesis that a gene located distal to 15q21 plays a critical role in normal diaphragm development.
  • Further research into 15q deletions and their role in CDH is warranted.

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