| Autor: |
Parihar M; Cytogenetics Unit, Christian Medical College, Vellore, Tamil Nadu, India., Koshy B, Srivastava VM |
| Jazyk: |
angličtina |
| Zdroj: |
Indian journal of human genetics [Indian J Hum Genet] 2013 Jul; Vol. 19 (3), pp. 346-8. |
| DOI: |
10.4103/0971-6866.120825 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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