P02-302 - Investigation of mental retardation etiology in romanian children using clinical, cytogenetic and array-CGH diagnostic techniques - 05/05/11
Résumé |
Introduction |
Mental retardation (MR) is the most common developmental disability, affecting 2–3% of the general population. A major challenge in both clinical practice and research in the field of MR is to identify the underlying causes: genetic, chromosomal and environmental factors that have an influence on a person’s development and behavior.
Objective |
We present the results of our study regarding genetic abnormalities associated with mental retardation in children.
Methods |
A total of 180 children were studied using a diagnostic protocol based on dysmorphologic and clinical assessment. A disease, familial and personal history were noted. All patients were evaluated by clinical and paraclinical exams (including dysmorphological features, psychological tests, neurological features, neuroimagistic studies). Genetic investigations included a karyotype with GTG banding, FISH and array-CGH.
Results |
A specific causes for the mental handicap was identified in 80 children (44%).
These included a chromosomal abnormality in 32 cases (17%), microdeletion syndromes in 25 children (14%), recognizable syndromes in 23 (13%). Array CGH identified a 22q11 deletion in a girl with unusual phenotype for DiGeorge syndrome, a Xp21 duplication in a girl with severe phenotype (including sever mental retardation, epilepsy, dysmorphic features, genital anomalies, glaucoma, dental anomalies), and a 4p14 deletion in a girl with moderate mental retardation, dysmorphic features, diparesis, congenital heard malformation.
Conclusions |
While clinical diagnosis and conventional techniques form the mainstay of investigation of children with mental retardation, array CGH proved important diagnostic tool. Acknowledgments: National Research Program PN II, Project 42–130, CAPACITATI 29/2007–2009 Project; CNCSIS, Project 1203
Le texte complet de cet article est disponible en PDF.Vol 26 - N° S1
P. 898 - 2011 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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