Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases

Takema Kato, Miki Kawai, Shunsuke Miyai, Fumihiko Suzuki, Makiko Tsutsumi, Seiji Mizuno, Toshiro Ikeda, Hiroki Kurahashi

研究成果: Article査読


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.

ジャーナルCytogenetic and Genome Research
出版ステータスPublished - 01-04-2020

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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