G N Mallikarjuna Rao

Publications (3)2.57 Total impact

• Article: Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.

  G N Mallikarjuna Rao, T Hussain, N Geetha Devi, Suman Jain, G R Chandak, M P J S Ananda Raj
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  ABSTRACT: 66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compared to familial cases. The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.
  Indian Journal of Medical Sciences 02/2003; 57(1):1-6.
• Article: Translocation Down syndrome.

  A Jyothy, G N Mallikarjuna Rao, K S D Kumar, V Babu Rao, B Uma Devi, P P Reddy
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  ABSTRACT: Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental karyotypes, family history and parental ages has helped us greatly in offering genetic counseling, prenatal diagnosis and estimating the risk for the next conception.
  Indian Journal of Medical Sciences 05/2002; 56(5):225-9.
• Article: Parental age and the origin of extra chromosome 21 in Down syndrome

  A. Jyothy, K. S. D. Kumar, G.N. Mallikarjuna Rao, V. Babu Rao, B. Uma Devi, M. Sujatha, P. P. Reddy
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  ABSTRACT: We present a report of the parental ages (n = 865) and parental origin of meiotic nondisjunction (n = 236) that are likely to show a predisposition in the etiology of Down syndrome (DS). Chromosomal analysis, performed over a 20-year period, on 1001 Down syndrome subjects, revealed pure trisomy 21 karyotype in 880 subjects (87.92%), mosaic trisomy karyotype in 77 (7.69%), and translocation karyotype in 44 (4.39%). The mean maternal age was found to be 30.34 years, and mean paternal age was 31.04 years. Nondisjunctional error was 79.24% maternal and 20.76% paternal. The findings of the study revealed the significant contribution of advanced parental age and increased maternal meiotic nondisjunctional error to the origin of trisomy 21 Down syndrome.
  Journal of Human Genetics 04/2001; 46(6):347-350. · 2.57 Impact Factor