Affiliations: Department of Clinical Genetics, Human Genetics & Genome Research, National Research Center, Cairo, Egypt | Department of Human Cytogenetics, Human Genetics & Genome Research, National Research Center, Cairo, Egypt
Note: [] Corresponding author: Mona O. El-Ruby, National Research Center, Human Genetics & Genome Research, Department of Clinical Genetics, Cairo, Egypt. Tel.: +20 2 33371211; Fax: +20 2 33371615; E-mail: [email protected].
Abstract: 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.
