Publications by authors named "Inesse B Bouhjar"
Objective: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype.
Methods: We retrospectively analyzed the medical records of 28 patients (21 pediatric patients and 7 adults) with a genetically confirmed diagnosis of 22q11.
Mental retardation affects 1-3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogenetics of Farhat Hached hospital (Sousse, Tunisia) between January 2005 and December 2009, were analyzed using standard cytogenetic techniques. Age ranged between 3 and 18 years with a median of 8 years.
View Article and Find Full Text PDFIn this study, we report two patients with the supernumerary marker chromosome (15)s. The first case is an 8.5-year-old girl with an inv dup (15) syndrome, mental retardation and dysmorphic features.
View Article and Find Full Text PDFArticle Synopsis
- - Partial trisomy 9p is a common genetic anomaly that usually leads to recognizable physical features and varying degrees of mental disability, with previous studies indicating a key region affecting these traits at 9p22.
- - A new case involving an 8-year-old boy with partial trisomy 9p13.3→9pter exhibited typical physical features but normal mental development, suggesting variability in symptoms.
- - Genetic tests revealed the boy's karyotype and significant chromosomal duplications, underscoring that not all cases of partial trisomy 9p result in intellectual disabilities, highlighting the complexity of this genetic condition.