A Case of 17q22 with Interstitial Deletion
Journal of Genetic Medicine
;
: 58-61, 2011.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Brazo
/
Cromosomas Humanos Par 17
/
Contractura
/
Trastornos de los Cromosomas
/
Pérdida Auditiva Bilateral
/
Articulaciones
/
Corea (Geográfico)
/
Microcefalia
Límite:
Niño
/
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of Genetic Medicine
Año:
2011
Tipo del documento:
Artículo
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