Roli Mathur

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The utility of polymerase chain reaction (PCR) amplification of amelogenin gene as a reliable and rapid means of determination of sex chromosomes was tested in 20 patients of X-linked disorders (Duchenne muscular dystrophy, haemophilia and Wiscott-Aldrich and Hunter's syndromes), 12 of intersex (testicular feminization syndrome, male pseudohermaphrodites,(More)
Byssinosis is an occupational hazard for the workers exposed to cotton dust. In this study 616 cotton textile workers were studied; out of which 149 had byssinosis; 37 (24.7%) had grade-1/2, 78 (52.7%) grade-1, 25 (16.6%) grade-2 and 9 (6.0%) of grade-3 byssinosis. Majority of the byssinotics were of age group between 36-40 years and had developed disease(More)
Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders. They are characterized by susceptibility to chromosomal breakages, increased frequency of breaks and interchanges occurring either spontaneously or following exposure(More)
Steroid 21-hydroxylase deficiency congenital adrenal hyperplasia is the most common cause of genital ambiguity in females at birth. Inhibited formation of cortisol causes increase in the release of ACTH in turn leading to overproduction of adrenal androgens. This predisposes the affected female fetus to prenatal development of genital ambiguity. A large(More)