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A Case of Familial Ring Chromosome 21 Mosaicism

Laboratory Medicine Online 2021년 11권 2호 p.132 ~ 134
강혜인, 박성균, 김도훈, 이원목, 류남희, 전동석, 강석진, 하정숙,
소속 상세정보
강혜인 ( Kang Hye-In ) - Keimyung University School of Medicine Department of Laboratory Medicine
박성균 ( Park Sung-Gyun ) - Keimyung University School of Medicine Department of Laboratory Medicine
김도훈 ( Kim Do-Hoon ) - Keimyung University School of Medicine Department of Laboratory Medicine
이원목 ( Lee Won-Mok ) - Keimyung University School of Medicine Department of Laboratory Medicine
류남희 ( Ryoo Nam-Hee ) - Keimyung University School of Medicine Department of Laboratory Medicine
전동석 ( Jeon Dong-Seok ) - Keimyung University School of Medicine Department of Laboratory Medicine
강석진 ( Kang Seok-Jin ) - Keimyung University School of Medicine Department of Pediatrics
하정숙 ( Ha Jung-Sook ) - Keimyung University School of Medicine Department of Laboratory Medicine

Abstract


Parent-to-child transmission of ring chromosome (RC) 21 with retained mosaicism has been reported very rarely. Here, we report a case of familial RC 21 mosaicism composed of several derivative clones resulted from mitotic instability of RC 21. Mother had mos 46,XX,r(21)(p13q22.3)[12]/46,XX[8], and her daughter had a more complex mosaicism, mos 47,XX,+r(21)(p13q22.3)mat[4]/45,XX,-21[3]/46,XX,r(21)(p13q22.3)mat[1]/47,XX,+dic r(21)[1]/46,XX[22].

키워드

Ring chromosome; Mosaicism; Inheritance

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