Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Prenat Diagn. 2001 Apr;21(4):289-92. doi: 10.1002/pd.50.


Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosomes, Human, Pair 15*
  • Consanguinity
  • Fatal Outcome
  • Female
  • Fetal Growth Retardation / diagnostic imaging
  • Fetal Growth Retardation / genetics
  • Gene Deletion*
  • Gestational Age
  • Hernia, Diaphragmatic / diagnostic imaging*
  • Hernia, Diaphragmatic / genetics*
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prognosis
  • Ultrasonography, Prenatal*