|
KMID : 1100820210110020132
|
|
Laboratory Medicine Online
2021 Volume.11 No. 2 p.132 ~ p.134
|
|
|
A Case of Familial Ring Chromosome 21 Mosaicism
|
|
Kang Hye-In
Park Sung-Gyun
Kim Do-Hoon
Lee Won-Mok
Ryoo Nam-Hee
Jeon Dong-Seok
Kang Seok-Jin
Ha Jung-Sook
|
|
|
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].
|
|
|
KEYWORD
|
|
|
Ring chromosome, Mosaicism, Inheritance
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|