1.
Journal of Genetic Medicine
; : 67-70, 2011.
Article
in Korean
| WPRIM
| ID: wpr-183559
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]).
Subject(s)
Adult , Female , Humans , Aneuploidy , Chromosomes, Human, Pair 8 , Cytogenetics , Forehead , Mosaicism , Phenotype , Skull , Trisomy , Uniparental Disomy
2.
Journal of the Korean Pediatric Society
; : 845-850, 1992.
Article
in Korean
| WPRIM
| ID: wpr-36209
3.
Journal of the Korean Pediatric Society
; : 553-557, 1991.
Article
in Korean
| WPRIM
| ID: wpr-156281