AI Article Synopsis
- Subtelomeric copy number changes are linked to about 5% of cases of mental retardation.
- Advanced molecular techniques, specifically MLPA, can identify these subtelomeric microduplications.
- A Tunisian family study revealed that three sisters shared the same microduplications at 15q and Xq, linked to their conditions of moderate mental retardation and other physical anomalies.
Article Abstract
Copy number changes of subtelomeric regions are a common cause of mental retardation, occurring in approximately 5% of mentally retarded patients. New molecular techniques allow the identification of subtelomeric microduplications. We report a Tunisian family of three sisters with moderate mental retardation, facial dysmorphism, cardiopathy, and bilateral clinodactyly of the third and fourth toes, explored by MLPA, showing the same associated microduplications, 15q and Xq, without a concurrent deletion.
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| http://dx.doi.org/10.1007/s10528-010-9371-y | DOI Listing |
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