A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization.
10.3343/kjlm.2010.30.1.84
- Author:
Kwang Sook WOO
1
;
Ji Eun KIM
;
Kyung Eun KIM
;
Myo Jing KIM
;
Jae Ho YOO
;
Hyun Sook AHN
;
Lisa G SHAFFER
;
Jin Yeong HAN
Author Information
1. Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
- Publication Type:Case Report
- Keywords:
Comparative Genomic Hybridization;
Chromosomes;
Human;
Pair 6;
Chromosome Deletion
- MeSH:
Abnormalities, Multiple/*genetics;
*Chromosome Deletion;
*Chromosomes, Human, Pair 6;
Comparative Genomic Hybridization/*methods;
Female;
Humans;
Infant, Newborn;
Karyotyping;
Oligonucleotide Array Sequence Analysis
- From:The Korean Journal of Laboratory Medicine
2010;30(1):84-88
- CountryRepublic of Korea
- Language:English
-
Abstract:
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature.
