Mosaic double aneuploidy: Down syndrome and XYY |
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Authors: | Mayur Parihar Beena Koshy Vivi Miriam Srivastava |
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Institution: | 1.Cytogenetics Unit, Christian Medical College, Vellore, Tamil Nadu, India;2.Developmental Paediatrics, Christian Medical College, Vellore, Tamil Nadu, India |
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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,+2119]/48, XYY,+216]. 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. |
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Keywords: | Disorder of sexual development double aneuploidy Down syndrome with XYY meiotic non-disjunction mosaic |
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