A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
Journal of Genetic Medicine
; : 67-70, 2011.
Article
in Ko
| WPRIM
| ID: wpr-183559
Responsible library:
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]).
Key words
Full text:
1
Database:
WPRIM
Main subject:
Phenotype
/
Skull
/
Trisomy
/
Chromosomes, Human, Pair 8
/
Cytogenetics
/
Uniparental Disomy
/
Forehead
/
Aneuploidy
/
Mosaicism
Limits:
Adult
/
Female
/
Humans
Language:
Ko
Journal:
Journal of Genetic Medicine
Year:
2011
Document type:
Article