Mosaic double aneuploidy: Down syndrome and XYY.
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Date
2013-07
Journal Title
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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,+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.
Description
Keywords
Disorder of sexual development, double aneuploidy, Down syndrome with XYY, meiotic non‑disjunction, mosaic
Citation
Parihar Mayur, Koshy Beena, Srivastava Vivi Miriam. Mosaic double aneuploidy: Down syndrome and XYY. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 346-348.