A Case of 17q22 with Interstitial Deletion
So-Yeon KANG; Beom-Hee LEE; Gu-Hwan KIM; Jin-Ho CHOI; Han-Wook YOO.
Journal of Genetic Medicine
; : 58-61, 2011.
Artículo
en Ko
| WPRIM | ID: wpr-183561
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.
Biblioteca responsable:
WPRO
Texto completo
Documentos relacionados