Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
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چکیده
منابع مشابه
Speech and Language Disorders in Children with Intellectual Disability
This study of 148 Bulgarian children with mild intellectual disabilities investigated the incidence of various types of speech and language disorders in children with intellectual disabilities. A questionnaire was given to the parents and relatives of the children requiring information about the pupils' pre-, peri-, and early postnatal onthogenesis. The children also underwent a battery of diag...
متن کاملCommunication disorders: prevalence and comorbid intellectual disability, autism, and emotional/behavioral disorders.
PURPOSE To determine a population-based estimate of communication disorders (CDs) in children; the co-occurrence of intellectual disability (ID), autism, and emotional/behavioral disorders; and the impact of these conditions on the prevalence of CDs. METHOD Surveillance targeted 8-year-olds born in 1994 residing in 2002 in the 3 most populous counties in Utah (n = 26,315). A multiple-source r...
متن کاملClinical and molecular delineation of the 17q21.31 microdeletion syndrome.
BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the prevalence of the syndrome to be 1 in 1...
متن کاملComparison of Motor Skills Among Studens with Intellectual Disability, Stuttering, Articulation Problems and Normal Speech
Objective: This research aimed to compare the motor skills among students with intellectual disability, stuttering, articulation problems and normal speech. Methods: The study was a retrospective causal-comparative research. From among all elementary male students with intellectual disability in Urmia city, 90 students (30 students in each group) were selected. All groups completed the revised ...
متن کاملFurther clinical and molecular delineation of the 15q24 microdeletion syndrome
BACKGROUND Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fif...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2019
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.896