A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27
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...
متن کاملFragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.
A pedigree showing the fragile site at Xq27 in a severely retarded female and in other less retarded carriers is described. Two of the four moderately retarded males with the fra(X)(q27) show macro-orchidism, and a variety of other features usually used to support the effects of the fra(X)(q27) are also inconsistent. A second fragile site at (10)(q23) is also present and in the two oldest femal...
متن کاملa comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولLocalisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped ...
متن کاملA Comparative Study of Anhedonia among Parents of Children with and without Mental Retardation
Background and Objectives: Regarding the importance of pleasure in people`s psychological well-being and the quality of parents` care-taking behaviors, the present study compared the anhedonia among parents of children with or without mental retardation. Material and Methods: In this cross-sectional study, 52 parents were recruited to the study (27 parents of mentally-retarded children and 25 p...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302772