A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
Journal of Genetic Medicine
; : 67-70, 2011.
Artículo
en Coreano
| WPRIM (Pacífico Occidental)
| ID: wpr-183559
Biblioteca responsable:
WPRO
ABSTRACT
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal malformation, cryptochidism, varying degree of developemental delay. Due to the extremely variable phenotypic and cytogenetic expression, CT8M has gone undiagnosed in certain patients. We report a 28-year-old women with secondary amenorreha without characteristic CT8M phenotype. Chromosomal analysis showed a CT8M (47,XX,+8[9]/46,XX[41]).
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Cráneo
/
Trisomía
/
Cromosomas Humanos Par 8
/
Citogenética
/
Disomía Uniparental
/
Frente
/
Aneuploidia
/
Mosaicismo
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of Genetic Medicine
Año:
2011
Tipo del documento:
Artículo