TY - JOUR
T1 - Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases
AU - Kato, Takema
AU - Kawai, Miki
AU - Miyai, Shunsuke
AU - Suzuki, Fumihiko
AU - Tsutsumi, Makiko
AU - Mizuno, Seiji
AU - Ikeda, Toshiro
AU - Kurahashi, Hiroki
N1 - Publisher Copyright:
© 2020 S. Karger AG, Basel.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5 and 47,XY,+8). To elucidate the mechanisms underlying these mosaicisms, we conducted molecular cytogenetic analyses. Genotyping data from the SNP microarray indicated that 2 sequential meiotic or early postzygotic segregation errors likely had occurred followed by natural selection. These cases suggest that frequent segregation errors and selection events in the meiotic and early postzygotic stages lead to this condition.
AB - We present 2 cases of double mosaic aneuploidy harboring 2 or more different aneuploid cell lines, but no line with a normal chromosome constitution. One of these cases presented mosaicism of sex chromosome aneuploid cell lines (47,XXX/45,X) along with another line containing an autosomal trisomy (47,XX,+8), while the other case showed mosaicism of 2 different autosomal trisomy cell lines (47,XY,+5 and 47,XY,+8). To elucidate the mechanisms underlying these mosaicisms, we conducted molecular cytogenetic analyses. Genotyping data from the SNP microarray indicated that 2 sequential meiotic or early postzygotic segregation errors likely had occurred followed by natural selection. These cases suggest that frequent segregation errors and selection events in the meiotic and early postzygotic stages lead to this condition.
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U2 - 10.1159/000507177
DO - 10.1159/000507177
M3 - Article
C2 - 32248198
AN - SCOPUS:85083420017
SN - 1424-8581
VL - 160
SP - 118
EP - 123
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
IS - 3
ER -