Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature

Fetal Diagn Ther. Nov-Dec 2004;19(6):510-2. doi: 10.1159/000080164.


Objective: To provide new insights into how chromosomal aberrations affect fetal development, as well as for the counseling of parents in comparable situations, it is important to characterize and report the genotypes of fetuses with clinical anomalies.

Methods: Molecular cytogenetic analyses in a fetus with congenital diaphragmatic hernia (CDH).

Results: This report describes the first case of a deletion of the region q26.1-ter on chromosome 15 occurring as a de novo event associated with CDH. A detailed review of the literature provides further evidence of a functional association between deletions within the chromosomal region 15q24-ter and the development of CDH.

Conclusions: The obtained data argue that detection of such a deletion in the region 15q24-ter associated with CDH likely predicts a poor prognosis. This report highlights the importance of giving special diagnostic attention to the chromosomal region 15q24-ter when prenatal ultrasound examination provides evidence of a CDH and warrants further research to identify genetic elements within the chromosomal region 15q24-ter related to the development of diaphragmatic hernia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Female
  • Hernia, Diaphragmatic / genetics*
  • Humans
  • Pregnancy