계명대학교 의학도서관 Repository

A Case of Familial Ring Chromosome 21 Mosaicism

Metadata Downloads
Affiliated Author(s)
박성균김도훈이원목류남희전동석강석진하정숙
Alternative Author(s)
Park, Sang KyoonKim, Do HoonLee, Won MokRyoo, Nam HeeJeon, Dong SeokKang, Seok JinHa, Jung Sook
Journal Title
Laboratory Medicine Online
ISSN
2093--6338
Issued Date
2021
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
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
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
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)
공개 및 라이선스
  • 공개 구분공개
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.