| Autor: |
Sheth, H.J., Munoz, A., Sergi, C., Pani, J., Blouin, J.L., Sheth, J.J., Sheth, F.J. |
| Zdroj: |
International Journal of Human Genetics; March 2011, Vol. 11 Issue: 1 p51-53, 3p |
| Abstrakt: |
AbstractHere we report a case of double aneuploidy showing trisomy 21 and triple-X chromosome in a case of Down syndrome born to young non-consanguineous parents. The child presented with strabismus, periorbital swelling, scanty eyebrows and microganthia in addition to Down features. Molecular characterization has shown the maternal origin of double aneuploidy with trisomy 21 at meiosis-II and triple-X at meiosis-I. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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