J Genet Med.  2011 Jun;8(1):67-70. 10.5734/JGM.2011.8.1.67.

A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

  • 1Department of Obstetrics and Gynecology, Jeju National University, College of Medicine, Jeju, Korea. art3255@hanmail.net


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]).


Secondary amenorrhea; Trisomy 8 mosaicism
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