| CASE REPORT |
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| Year : 2013 | Volume
: 19
| Issue : 3 | Page : 346-348 |
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Mosaic double aneuploidy: Down syndrome and XYY
Mayur Parihar1, Beena Koshy2, Vivi Miriam Srivastava1
1 Cytogenetics Unit, Christian Medical College, Vellore, Tamil Nadu, India
2 Developmental Paediatrics, Christian Medical College, Vellore, Tamil Nadu, India
Correspondence Address:
Vivi Miriam Srivastava
Cytogenetics Unit, Christian Medical College, Vellore - 632 004, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | 2 |
DOI: 10.4103/0971-6866.120825
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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. |
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