A Case of 17q22 with Interstitial Deletion
Journal of Genetic Medicine
;
: 58-61, 2011.
Article
in Korean
| WPRIM
| ID: wpr-183561
ABSTRACT
Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Chromosomes, Human, Pair 17
/
Contracture
/
Chromosome Disorders
/
Hearing Loss, Bilateral
/
Joints
/
Korea
/
Microcephaly
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of Genetic Medicine
Year:
2011
Type:
Article
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