Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first
Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
✍ Scribed by M�garban�, A.; Khalil, G.; Waked, N.; R�tig, A.; Caillaud, C.; Loiselet, J.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 32 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991203)87:4<289::aid-ajmg1>3.0.co;2-t
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