Cytogenetic analysis of 1400 referral cases

Manipal experience

M. Rajasekhar, R. Murugesan, Rekharao, H. Shetty, Jyothirao, P. M. Gopinath, K. Satyamoorthy

    Research output: Contribution to journalArticle

    5 Citations (Scopus)

    Abstract

    Karyotypes were examined in 1400 cases, suspected of having chromosomal abnormalities. A total of 343 (24.5 per cent) had abnormal karyotypes including 43 (3.07%) polymorphic variants; 14.28% of children exhibited chromosome abnormalities including 12.07% of Down syndrome, 2.21% of congenital anomalies including global developmental delay, 0.5% with intersex disorders. Chromosomal abnormalities were observed in individuals with pubertal failures including short stature and amenorrhea in females (3.35%), and were recorded in 0.43% males. Cases of reproductive failures (3.64%) included recurrent miscarriages, bad obstetric history and infertility. Of these 2.28% were instances of polymorphic variants. Fifty seven patients who diagnosed of various symptoms of cancer were studied and found to have 56% structural variations including Philadelphia chromosome. Cytogenetic analysis is found to be useful in providing genetic counseling.

    Original languageEnglish
    Pages (from-to)49-55
    Number of pages7
    JournalInternational Journal of Human Genetics
    Volume10
    Issue number1-3
    Publication statusPublished - 2010

    Fingerprint

    Cytogenetic Analysis
    Chromosome Aberrations
    Referral and Consultation
    Abnormal Karyotype
    Philadelphia Chromosome
    Habitual Abortion
    Amenorrhea
    Genetic Counseling
    Down Syndrome
    Karyotype
    Infertility
    Obstetrics
    History
    Neoplasms

    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)

    Cite this

    Rajasekhar, M., Murugesan, R., Rekharao, Shetty, H., Jyothirao, Gopinath, P. M., & Satyamoorthy, K. (2010). Cytogenetic analysis of 1400 referral cases: Manipal experience. International Journal of Human Genetics, 10(1-3), 49-55.
    Rajasekhar, M. ; Murugesan, R. ; Rekharao ; Shetty, H. ; Jyothirao ; Gopinath, P. M. ; Satyamoorthy, K. / Cytogenetic analysis of 1400 referral cases : Manipal experience. In: International Journal of Human Genetics. 2010 ; Vol. 10, No. 1-3. pp. 49-55.
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    Rajasekhar, M, Murugesan, R, Rekharao, Shetty, H, Jyothirao, Gopinath, PM & Satyamoorthy, K 2010, 'Cytogenetic analysis of 1400 referral cases: Manipal experience', International Journal of Human Genetics, vol. 10, no. 1-3, pp. 49-55.

    Cytogenetic analysis of 1400 referral cases : Manipal experience. / Rajasekhar, M.; Murugesan, R.; Rekharao; Shetty, H.; Jyothirao; Gopinath, P. M.; Satyamoorthy, K.

    In: International Journal of Human Genetics, Vol. 10, No. 1-3, 2010, p. 49-55.

    Research output: Contribution to journalArticle

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    Rajasekhar M, Murugesan R, Rekharao, Shetty H, Jyothirao, Gopinath PM et al. Cytogenetic analysis of 1400 referral cases: Manipal experience. International Journal of Human Genetics. 2010;10(1-3):49-55.