Publications by authors named "Hanane Ait Hammou"
Article Synopsis
- The study aimed to analyze the phenotypic and cytogenetic characteristics of trisomy 13 in a Moroccan population involving 9 diagnosed cases.
- A slight female predominance was observed, with major clinical findings including severe physical and developmental abnormalities such as holoprosencephaly, cleft lip and palate, and congenital heart defects.
- The cytogenetic analysis revealed that most cases had free and homogeneous trisomy 13, which often resulted in early mortality, while one variant, partial trisomy 13 (t(13;18)), had better outcomes with patients surviving longer but still facing significant health issues.
Williams-Beuren syndrome is a rare genetic disease (1/20 000) characterized by a microdeletion at 7q11.23 encompassing about 28 genes, including the elastin gene, ELN. It is a sporadic disease in the majority of cases.
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