Cytogenetic Practice in a Mental Retardation Clinic
نویسندگان
چکیده
منابع مشابه
Cytogenetic Studies of Idiopathic Mental Retardation: A Report
A majority of subjects with mental retardation and congenital anomalies cannot be classified under any known malformation syndromes. Major problems in understanding the mechanisms involved in the production of this abnormal phenotype and consequently in providing accurate and informed genetic counseling are therefore challenging. The application of recently developed chromosome banding techniqu...
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 کاملA cytogenetic study of children with clinically unclassifiable multiple congenital malformations and mental retardation.
A cytogenetic study was performed on 74 children with at least three major or minor congenital malformations and mental retardation, and whose phenotypes did not fit any well-defined syndrome. The chromosomes were examined routinely using banding techniques. A total of 11 patients (14.9%) was found to have a major chromosome abnormality: one patient had a sex chromosome structural abnormality a...
متن کاملMental Retardation ; Molecular Cytogenetic Techniques Used for Diagnosis ; a Literature Survey
INTRODUCTION the chromosomes of the probands by investigating Mental retardation (MR) affects approximately 1-3 % of chromosome numbers and or chromosomal the general population in the United States (Higgins et abnormalities. If karyotype is normal then fragile X al., 2004) but this figure would be higher in developing testing is performed. Afterward, on the basis of clinical countries because ...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
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ژورنال
عنوان ژورنال: Canadian Psychiatric Association Journal
سال: 1967
ISSN: 0008-4824
DOI: 10.1177/070674376701200109