Publications by authors named "Hedia Tebourbi"
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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- Subtelomeric rearrangements play a significant role in idiopathic mental retardation, often without unique physical traits.
- A study screened 30 patients with unexplained mental retardation using Multiplex ligation-dependent probe amplification (MLPA), leading to the discovery of four genetic anomalies that traditional methods missed.
- The prevalence of subtelomeric imbalances in this study was about 13%, aligning with existing research, and MLPA was found to be a quicker and more cost-effective option compared to the fluorescence in situ hybridization (FISH) technique.