1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation
نویسندگان
چکیده
منابع مشابه
A survey of patients with mental retardation of unknown origin
Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...
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EDITOR—Congenital disorders of glycosylation (CDG) are a heterogeneous group of autosomal recessive multisystemic conditions causing severe central nervous system and multivisceral disorders resulting from impairment of the glycosylation pathway. Two disease causing mechanisms have been identified so far. CDG I is caused by a defect in the assembly of the dolicholpyrophosphate oligosaccharide p...
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Human health is highly dependent on the condition of health-related physical fitness and particularly body composition. Adolescence is unique in this regard, especially when the adolescents are mentally retarded, about whom information on physical fitness is limited. Thus, the objective of this paper was to study the components of health-related physical fitness with emphasis on body composit...
متن کاملQualitative assessment of brain anomalies in adolescents with mental retardation.
BACKGROUND AND PURPOSE The neural basis of mental retardation is poorly understood. This study aimed to characterize structural anomalies of the brain in mental retardation and the relationship between them and the degree of mental retardation. METHODS Eighty adolescents receiving educational support and 40 controls underwent MR brain imaging and intelligence quotient (IQ) assessment. MR imag...
متن کاملCongenital anomalies associated with cerebral palsy and mental retardation.
In the past 12 years 800 children with mental retardation or with cerebral palsy have been seen in the Children's Hospital, Sheffield, by the Department of Child Health. While looking through punch-card summaries of these cases, it became obvious that there was a much higher incidence of associated congenital anomalies in children with mental retardation without cerebral palsy than in those wit...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2013
ISSN: 1755-8166
DOI: 10.1186/1755-8166-6-30