PRENATAL DIAGNOSIS OF A GIRL WITH MUSCULAR DYSTROPHY CAUSED BY DE NOVO t(X;4) (p21;q35)
نویسندگان
چکیده
منابع مشابه
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by earl...
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According to classical genetics, a recessive sex-linked or X-linked gene manifests its existence phenotypically only in the absence of its normal allele, that is, in the homozygous state or in the absence of a second X chromosome carrying the normal allele. The latter requirement is met, for instance, in males who have haemophilia as a sex-linked trait: they have only one X chromosome in their ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1984
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198404001-00790