DMD carrier detection in a female with mosaic Turner's syndrome.
نویسندگان
چکیده
منابع مشابه
DMD carrier detection in a female with mosaic Turner's syndrome.
We are at present trying to identify DMD carriers by gene dosage analyses in those DMD families where the patient exhibits a deletion within one of the DMD-1 cDNA clones.' In the study of one such family using 2 7 probe 8, a deletion of the 1-25, 3-8, 1-6, and 3-7 kb HindIII fragments was seen in a boy with DMD. Visual inspection of the intensity of the 3 8 and 3 7 kb (6 bands diagnosed subject...
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A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. T...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.3.209