منابع مشابه
Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.
We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in...
متن کاملA 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 کاملHealth-related Physical Fitness in Children with Mental Retardation
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 کاملGitelman's syndrome with mental retardation.
A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS). We examined the thiazide-sensitive Na-Cl ...
متن کاملMental Retardation
This small book is the first of a series of occasional papers which are to be published under the auspices of the Institute for Research into Mental Retardation, and its author is the chairman of the Institute's Research Committee. In the preface, it is said to be aimed at an intelligent lay audience and it is suggested that 'it will be read with interest and profit by workers in the field of m...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1973
ISSN: 0035-9157
DOI: 10.1177/003591577306600311