A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 84-88, 2010.
Article
in English
| WPRIM
| ID: wpr-82763
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Abnormalities, Multiple
/
Chromosomes, Human, Pair 6
/
Chromosome Deletion
/
Oligonucleotide Array Sequence Analysis
/
Comparative Genomic Hybridization
/
Karyotyping
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
English
Journal:
The Korean Journal of Laboratory Medicine
Year:
2010
Type:
Article
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