Congenital Diaphragmatic Hernia in a Fetus with a De novo Terminal Deletion of Chromosome 15q26.1Ruth C1*, Starcevic J2, Bartholomew ML3, Qin N4 and Slavin TP2,5
- *Corresponding Author:
Chelsey 1319 Punahou Street
Suite 540, Honolulu, HI 96826; 808-983-6470
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.