1.
Journal of Genetic Medicine
;
: 67-70, 2011.
Artículo
en Coreano
| WPRIM
| ID: wpr-183559
RESUMEN
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]).
Asunto(s)
Adulto , Femenino , Humanos , Aneuploidia , Cromosomas Humanos Par 8 , Citogenética , Frente , Mosaicismo , Fenotipo , Cráneo , Trisomía , Disomía Uniparental
2.
Journal of the Korean Pediatric Society
;
: 845-850, 1992.
Artículo
en Coreano
| WPRIM
| ID: wpr-36209
3.
Journal of the Korean Pediatric Society
;
: 553-557, 1991.
Artículo
en Coreano
| WPRIM
| ID: wpr-156281