title: Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.
abstract: Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal content into the thoracic cavity through an abnormal opening in the diaphragm present at birth. It is a common birth defect with high mortality and morbidity. Submicroscopic deletions of 15q26.1 and 8p23.1 have been reported in several cases of CDH. We studied a total of 17 cases with CDH in pre- and postnatal samples using FISH probes. Deletion 15q26.1 was seen in 1/17 prenatal samples. There was no deletion for 8p23.1 in all the samples analyzed. CDH has a genetic etiology, and deletion 15q26.1 increases the risk of CDH. Deletion 15q26.1 in a fetus with CDH is a predictor of poor prognosis. This deletion is also seen in a phenotype similar to Fryns syndrome. CDH identified pre- or postnatally should be investigated further to exclude a 15q26.1 deletion and enable appropriate parental counseling.
authors.affiliation: Department of Medical Genetics, Manipal Hospital, Bangalore, India.
authors.forename: Mitesh
authors.initials: M
authors.lastname: Shetty
authors.affiliation: Center for Human Genetics, Biotech Park, Bangalore, India.
authors.forename: Jayarama
authors.initials: J
authors.lastname: Kadandale
authors.affiliation: Department of Medical Genetics, Manipal Hospital, Bangalore, India.
authors.forename: Sridevi
authors.initials: S
authors.lastname: Hegde
keywords: Congenital diaphragmatic hernia; Deletion 15q26.1; Deletion 8p23.1; FISH