Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray.
- Author:
Mi Hyun BAE
1
;
Han Wook YOO
;
Jin Ok LEE
;
Maria HONG
;
Eul Ju SEO
Author Information
1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ejseo@amc.seoul.kr
- Publication Type:Original Article
- Keywords:
Supernumerary marker chromosomes;
Marker chromosomes;
Chromosomal microarray;
Array CGH
- MeSH:
Anus, Imperforate;
Chromosomes, Human, Pair 15;
Cytogenetics;
Genetic Association Studies;
Genetic Counseling;
Hearing;
Humans;
Phenotype;
Strabismus
- From:Journal of Genetic Medicine
2011;8(2):119-124
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. MATERIALS AND METHODS: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. RESULTS: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. CONCLUSION: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.
