Routine diagnostic detection of the fragile X.
نویسندگان
چکیده
منابع مشابه
Diagnostic reference levels (DRLs) for routine X-ray examinations in Lorestan province, Iran
Background: In diagnostic radiology there are two reasons for measuring or estimating radiation doses to patients. Firstly measurements provide a means for setting and checking standards of good practice as an aid to the optimization of patient protection. Secondly estimates of the absorbed dose to tissue and organs in the patients. Materials and Methods: A total of 2382 patients were studied t...
متن کاملFragile X testing in a diagnostic cytogenetics laboratory.
Chromosome results obtained from 1012 patients referred with developmental delay without known cause within the three years 1985 to 1987 are reported. G banding analysis and assessment of 70 cells for fragile X gave abnormal results in 84 cases: fragile X in 31 patients and other abnormalities in 53 patients. A further 16 sibs expressing the fragile X were detected in family studies originating...
متن کاملThe fragile X syndrome.
We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...
متن کاملFragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1984
ISSN: 1468-6244
DOI: 10.1136/jmg.21.1.74-a