Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia | Zendy

Mitesh Shetty | Zendy; Jayarama S. Kadandale | Zendy; Sridevi Hegde | Zendy

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Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

Author(s) -

Mitesh Shetty,

Jayarama S. Kadandale,

Sridevi Hegde

Publication year - 2015

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000442506

Subject(s) - congenital diaphragmatic hernia , medicine , diaphragmatic hernia , fetus , etiology , diaphragmatic breathing , diaphragm (acoustics) , phenotype , prenatal diagnosis , pediatrics , pathology , hernia , genetics , gene , surgery , pregnancy , biology , physics , alternative medicine , acoustics , loudspeaker

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.

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