7 results for "Sarra Dimassi"
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Journal Article
Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights
IntroductionWilliams-Beuren syndrome (WBS) is a rare genetic disorder characterized by congenital heart defects, dysmorphic features, intellectual delay, and a distinctive social behavioral profile. This highly recurrent and homogeneous phenotype has been curiously reported to be associated with…
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Journal Article
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods In…
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Journal Article
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical…
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Journal Article
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
Abstract Background Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using…
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Journal Article
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
Abstract Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18…
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Journal Article
Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
BackgroundCorpus callosum abnormalities (CCA) represent a heterogeneous group of neurodevelopmental disorders resulting from disturbances in midline patterning, neuronal migration, and axonal guidance. Their genetic architecture includes chromosomal abnormalities, pathogenic copy-number variations…
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Journal Article
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the…