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

Author: Hye Sim KANG ¹ ; Young Soo SON ; Sung Yob KIM ; Chul Min PARK ; Soon Sup SHIM
Author Information

1. Department of Obstetrics and Gynecology, Jeju National University, College of Medicine, Jeju, Korea. art3255@hanmail.net
Publication Type:Case Report
Keywords: Secondary amenorrhea; Trisomy 8 mosaicism
MeSH: Adult; Aneuploidy; Chromosomes, Human, Pair 8; Cytogenetics; Female; Forehead; Humans; Mosaicism; Phenotype; Skull; Trisomy; Uniparental Disomy
From:Journal of Genetic Medicine 2011;8(1):67-70
CountryRepublic of Korea
Language:Korean
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]).