A Case of Familial Ring Chromosome 21 Mosaicism
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초록
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].
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].
참고문헌 (16)
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