Open AccessPhenotypic characterization of rare interstitial deletion of chromosome 4
Author(s) -
Samira Ismail,
Noha A.H. Helmy,
Wafaa Mahmoud,
Mona O. El Ruby
Publication year - 2015
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.3233/pge-2012-029
Subject(s) - phenotype , comparative genomic hybridization , fluorescence in situ hybridization , biology , genetics , chromosome , karyotype , gene , in situ hybridization , long arm , genome , gene expression
Interstitial deletion of the long arm of chromosome 4 is rare. Patients with interstitial deletion of the long arm of chromosome 4 differ from those with terminal deletions. Phenotypes may be variable, depending upon the specific length and location of the deleted portion. Here, we report on a boy exhibiting most of the congenital malformations encountered in terminal 4q syndrome. The conventional karyotyping and Fluorescence in-situ hybridization revealed a de novo interstitial del (4)(q31q32). The current report is a further document highlighting that deletion of segment q31 could be contributing to the expression of most of the phenotype of 4q deletion syndrome. Using array comparative genome hybridization methodology is recommended for investigating further cases with similar segmental interstitial deletions to support and delineate findings and to define genes implicated in the pathogenesis of the disorder.