Lab Med Online.  2021 Apr;11(2):132-134. 10.47429/lmo.2021.11.2.132.

A Case of Familial Ring Chromosome 21 Mosaicism

• Kang H
• Park S
• Kim DH
• Lee W
• Ryoo N
• Jeon DS
• Kang SJ
• Ha JS

• KMID: 2525799
• DOI: http://doi.org/10.47429/lmo.2021.11.2.132

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

Figure

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  Fig. 1 Partial karyotype of mother showing normal 21 (A) and ring chromosome 21 (B).

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  Fig. 2 Partial karyotype of daughter showing normal 21 (A), ring chromosome 21 (B), loss 21 (C), additional ring chromosome 21 (D), and additional dicentric ring chromosome 21 (E).

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