title: Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development.
abstract: 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.
authors: Department of Obstetrics and Gynecology, University of Erlangen-Nuremberg, Erlangen, Germany. Dietmar.Schlembach@gyn.med.uni-erlangen.de
authors: D
authors: D
authors: Schlembach
authors: M
authors: M
authors: Zenker
authors: U
authors: U
authors: Trautmann
authors: R
authors: R
authors: Ulmer
authors: E
authors: E
authors: Beinder
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002884:Chromosomes, Human, Pair 15; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D017353:Gene Deletion; D005865:Gestational Age; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011379:Prognosis; D016216:Ultrasonography, Prenatal