A Case of 17q22 with Interstitial Deletion.
- Author:
So Yeon KANG
1
;
Beom Hee LEE
;
Gu Hwan KIM
;
Jin Ho CHOI
;
Han Wook YOO
Author Information
- Publication Type:Case Report
- Keywords: Chromosome 17 interatitial deletion; Symphalagism; Chromosome disorder
- MeSH: Arm; Child; Chromosome Disorders; Chromosomes, Human, Pair 17; Contracture; Hearing Loss, Bilateral; Humans; Joints; Korea; Microcephaly
- From:Journal of Genetic Medicine 2011;8(1):58-61
- CountryRepublic of Korea
- Language:Korean
- 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.
