alexa Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1 | OMICS International | Abstract
ISSN: 2161-1041

Hereditary Genetics: Current Research
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Case Report

Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1

Ruth C1*, Starcevic J2, Bartholomew ML3, Qin N4 and Slavin TP2,5

1Fetal Diagnostic Center, Kapiolani Medical Center for Women and Children

2Department of Pediatrics, University of Hawaii, John A. Burns School of Medicine

3Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Hawai‘i, John A. Burns School of Medicine

4Genzyme Genetics, Orange, California

5Kapiolani Medical Specialists, Honolulu, Hawaii

*Corresponding Author:
Chelsey 1319 Punahou Street
Suite 540, Honolulu, HI 96826; 808-983-6470
Fax: 808-983-8989
E-mail: [email protected]

Received date: November 05, 2011; Accepted date: December 12, 2011; Published date: December 16, 2011

Citation: Ruth C, Starcevic J, Bartholomew ML, Qin N, Slavin TP (2012) Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1. Hereditary Genetics 1:101. doi: 10.4172/2161-1041.1000101

Copyright: © 2012 Ruth C, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


De novo terminal deletions of chromosome 15q26.1 are rare occurrences. Deletions of this region have been previously linked to congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay. This article presents a prenatal case of this de novo terminal deletion, detected by cytogenetic analysis and confirmed by fluorescence in situ hybridization (FISH), in a fetus with CDH and intrauterine growth restriction (IUGR). Genetic evaluation of pre- and postnatal cases of CDH should include at least a close examination of the terminal region of chromosome 15q26. As with any de novo substantial loss of genetic material, the prognosis is likely to include additional neurologic impairment and other congenital malformations in comparison to CDH patients without genomic alterations.


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