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A Case of Familial Ring Chromosome 21 Mosaicism

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Author(s)
Hyein KangSunggyun ParkDo-Hoon KimWonmok LeeNamhee RyooDong-Seok JeonSeok Jin KangJung Sook Ha
Keimyung Author(s)
Park, Sang KyoonKim, Do HoonLee, Won MokRyoo, Nam HeeJeon, Dong SeokKang, Seok JinHa, Jung Sook
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Laboratory Medicine Online
Issued Date
2021
Volume
11
Issue
2
Keyword
Ring chromosomeMosaicismInheritance
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].
부모에게서 자손으로 유전되는 ring chromosome (RC) 21 모자이크현상은 매우 드물게 보고되어 있다. 저자들은 RC 21의 유사분열 불안정성으로 인해 초래된 여러 개의 다른 클론으로 구성된 가족성 RC 21 모자이크현상을 보고하고자 한다. 어머니의 핵형은 mos 46,XX,r(21)(p13q22.3)[12]/46,XX[8]이었으며, 딸의 핵형은 좀 더 복잡한 모자이크현상을 보여 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]이었다.
Alternative Title
가족성 Ring Chromosome 21 모자이크현상 1예
Keimyung Author(s)(Kor)
박성균
김도훈
이원목
류남희
전동석
강석진
하정숙
Publisher
School of Medicine (의과대학)
Citation
Hyein Kang et al. (2021). A Case of Familial Ring Chromosome 21 Mosaicism. Laboratory Medicine Online, 11(2), 132–134. doi: 10.47429/lmo.2021.11.2.132
Type
Article
ISSN
2093--6338
Source
https://labmedonline.org/journal/view.html?doi=10.47429/lmo.2021.11.2.132
DOI
10.47429/lmo.2021.11.2.132
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/43514
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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