14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure.

Author: Chong Kun CHEON ¹ ; Sang Jin PARK ; Ook Hwan CHOI
Author Information

1. Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, Medical Research Institute, Pusan National University Children's Hospital, Yangsan, Korea.
Publication Type:Case Report
Keywords: 14q32.33 deletion; Fluorescence in situ hybridization; Array comparative genomic hybridization
MeSH: Chimera; Chromosomes, Human, Pair 14; Comparative Genomic Hybridization; Fluorescence; Humans; In Situ Hybridization; Phenotype; Preschool Child; Seizures
From:Journal of Genetic Medicine 2011;8(1):62-66
CountryRepublic of Korea
Language:English
Abstract: Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.