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- W2026156087 abstract "Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management." @default.
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- W2026156087 date "2013-01-01" @default.
- W2026156087 modified "2023-09-22" @default.
- W2026156087 title "Mosaic double aneuploidy: Down syndrome and XYY" @default.
- W2026156087 doi "https://doi.org/10.4103/0971-6866.120825" @default.
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