Medizinische Universität Graz - Research portal
Selected Publication:
Schlembach, D; Zenker, M; Trautmann, U; Ulmer, R; Beinder, E.
Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development.
Prenat Diagn. 2001; 21(4):289-292
Doi: 10.1002/pd.50
(- Case Report)
Web of Science
PubMed
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- Leading authors Med Uni Graz
- Schlembach Dietmar
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Adult - genetics
- Chromosomes, Human, Pair 15 - genetics
- Consanguinity - genetics
- Fatal Outcome - genetics
- Female - genetics
- Fetal Growth Retardation - genetics
- Gene Deletion - genetics
- Gestational Age - genetics
- Hernia, Diaphragmatic - genetics
- Humans - genetics
- Infant, Newborn - genetics
- Pregnancy - genetics
- Prognosis - genetics
- Ultrasonography, Prenatal - genetics
- Find related publications in this database (Keywords)
- congenital diaphragmatic hernia
- intrauterine growth retardation (IUGR)
- chromosome 15
- deletion 15q