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The Indian Journal of Pediatrics

, Volume 57, Issue 2, pp 235–243 | Cite as

Cytogenetic studies in a population suspected to have chromosomal abnormalities

  • V. C. Shah
  • D. S. Krishna Mutiny
  • Sabita K. Murthy
Symposium : Chromosomal Disorders

Abstract

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down’s syndrome, Klinefelters’s syndrome, Turner’s syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total 205 cases. In all, 57 (39.58%) were shown to have chromosomal abnormality and of these, 34 cases (25.7%) were Down’s syndrome. Sex chromosome abnormality was found in 19 cases (13.2%). The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development.

Key words

Ambiguous sex Congenital anomalies Down’s syndrome Hermaphrodite Mental retardation Polymorphism 

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References

  1. 1.
    Walter S, Gerald PS. Chromosome abnor-malities in 11, 154 newborn infants.Am J Hum Genet 1972; 24: 38.Google Scholar
  2. 2.
    Friedrich HE, Nielsen J. Chromosome studies in 5,049 consecutive newborn chil-dren.Clin Genet 1973; 4: 333–343.PubMedCrossRefGoogle Scholar
  3. 3.
    Jacobs PA, Melville M, Ratcliffe S. A cy-togenetic survey of 11,680 newborn infantsAnn Hum Genet 1974; 37: 359–376.PubMedCrossRefGoogle Scholar
  4. 4.
    Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants incidence of chromosome abnor-malities.Clin genet 1975; 8: 223–243.PubMedCrossRefGoogle Scholar
  5. 5.
    Evans HJ. Chromosome anomalies among live-births.J Med Genet 1977; 14: 309–312.PubMedCrossRefGoogle Scholar
  6. 6.
    Nielsen J, Hansen KB, Sillesen I, Videbech P. Chromosome abnormalities in newborn children. Aetiological aspects.Hereditas 1982; 96: 109–117.PubMedGoogle Scholar
  7. 7.
    Singh DN. Cytogenetic study of individu-als suspected of chromosome anomalies.Clin Pediatr 1977; 16: 619–622.Google Scholar
  8. 8.
    Patil SR. Lubs HA, Brown et al. Myrian-thopoulos Summit RL, Incidence of ma-jor chromosome abnormalities in chil-dren.Cytogenet Cell Genet 1977; 18: 302–396.Google Scholar
  9. 9.
    Verma RS. Dosik H. Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases.Clin Genet 1980; 17: 305–308.PubMedCrossRefGoogle Scholar
  10. 10.
    Rasmussen K, Nielsen J, Dahl G. The prevalence of chromosome abnormalities among mentally retarded persons In a geographically dilimited region of Den-mark.Clin Genet 1982; 22: 244–248.PubMedCrossRefGoogle Scholar
  11. 11.
    Grippenberg U, Hongell K Knuutila S et al. Chromosome survey of l062 mentally retarded patients. Evaluation of long term study at the Rinnekoti Institution, Fin-land.Hereditas 1980; 92: 223–228.CrossRefGoogle Scholar
  12. 12.
    Ambani LM, Patel ZM, Dhareshwar SS et al. Clinical, biochemical and cytogen-etic studies in mental retardation.Indian J Med Res 1984; 79: 384–391.PubMedGoogle Scholar
  13. 13.
    Verma IC. (Ed.) In :New Delhi: Directory of Human Genetic Services in India1st Ed. All India Institute of Medical Sciences, 1980.Google Scholar
  14. 14.
    Hungerford DA. Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromo-somes by treatment with hypotonic KCI.Stain Technol 1965;40: 333–337.PubMedGoogle Scholar
  15. 15.
    Sun NC, Chu EHY, Chang CC. Staining method for banding pattern of human mi-totic chromosomes.Caryologia 1974; 27: 315–316.Google Scholar
  16. 16.
    Krishna Murthy DS, Jayaraman S, Ambani LM. Giemsa banding pattern in the langur monkey-Presbytis entellus entellus.Curr Sci 1980; 48: 180–181.Google Scholar
  17. 17.
    Casperon T, Zech L, Johannson C, Modert EJ. Identification of human chromo-some by DNA binding fluorescent agents.Chromosoma (Berl.) 1970; 30: 215–217.Google Scholar
  18. 18.
    Sumner AT. A Simple method demon-strating centromeric heterochromatin.Exptt Cell Res 1976; 75: 304–306.CrossRefGoogle Scholar
  19. 19.
    Goodpasteur C, Bloom SE. Visualization of nucleolar organizer staining.Chromo-soma (Berl.) 1970; 30: 215–218.Google Scholar
  20. 20.
    Krishna Murthy DS, Murthy SK, Shah VC. Localization of nucleolus organizing resions on chromosomes of the hanuman langur, Presbytis entellus entellus (Dufresne) and the bonner monkey, Macaca radiata.Indian J Exptl Biol 1983; 21:315–317.Google Scholar
  21. 21.
    Paris Conference (1971) Supplement (1975) Standardization in human cytogen-etics.Birth Defects Original Article Series. 1975; 11:313–362.Google Scholar
  22. 22.
    Krishna Murthy DS, Patel ZM, Khanna SA et al. Frequency of trisomy-21, translocation, mosaicism and familial cases of Down’s syndrome in Bombay.In-dian J Med Res 1981; 73: 218–22.Google Scholar
  23. 23.
    Krishna Murthy DS, Sabita Roy, Contractor PM, Shah VC. Partial trisomy 21q (q21 qter) in a child with Down’s syn-drome.Indian J Pediatr 1984; 51: 363–366.PubMedGoogle Scholar
  24. 24.
    Davidenkova EF, Verlinskaha DK, Mashkova MV. Structurala aberrations of the chromosomes in man.Hum Genet 1978; 41:269–272.PubMedCrossRefGoogle Scholar
  25. 25.
    Forabosco A, Dallapiccola B. X-long arm deletion with features of Turner’s syndrome.Lancet 1974; II: 403.CrossRefGoogle Scholar
  26. 26.
    Shah VC, Krishna Murthy DS, Roy S et al. True Hermaphrodite: 46, XX/46, XY, Clinical, cytogenetic and histopathological studies.Indian J Pediatr 1982; 49: 885–889.PubMedGoogle Scholar
  27. 27.
    Krishna Murthy DS, Shah VC, Chadha AK et al. Hypospadias and gunecomastia in a male associated autosomal balanced translocation.Indian J Pediatr 1985; 72: 417–423.Google Scholar
  28. 28.
    Aarskog D. Clinical and cytogenetic stud-ies in hypospadias.Acta Ped Scand Suppl 1970; 203: 1–17.Google Scholar
  29. 29.
    Thomas IM, Joseph AM, Manjunatha KR et al. Cytogenetic investigations in sus-pected cases of chromosomal abnormali-ties in human subjects. International Con-gress of Genetics, Ontario, Canada. 1988; Abst No. 32. 51. 60.Google Scholar
  30. 30.
    Krishnan BR, Papakumari M, Gopinath PM. Chromosomal anomalies in a group of mental retarded children from Madras. International Congress of Genetics, on-tario, Canada 1988. Abst No. 32. 51. 48.Google Scholar
  31. 31.
    I.C.M.R. Task Force study : Delhi, Lucknow, Bombay and Bangalore. Chro-mosomal anomalies in Mentally retarded. In : Proceedings of the Human Chromo-some Update Lucknow, Dec 3–5,1988; 29.Google Scholar
  32. 32.
    Augustus M, Sudershan TS, Tharpel A, Sharat Chandra H.S. A chromosomal sur-vey of 580 newborn infants from Banga-lore. 8the Annual Conference of Indian Society of Human Genetics. Pune 27–27 Nov. 1981 Abst. 22 9.Google Scholar
  33. 33.
    Kulkarni MV, Patel ZM, Peter JJ, Am-bani LM. Cytogenetic abnormalities in idiopathic mental retardation. 6th Annual Conference of Indian Society of Human Genetics and a National Symposium of Child with Genetic Defects. Hyderabad, 8–10 Feb. 1980.Google Scholar
  34. 34.
    Krishnakumari D, Isac GS, Reddy PP. Chromosome investigations in male infertility. In : Proceedings of Human Chromosome Update, Lucknow, Dec 3–5 1984. 30.Google Scholar
  35. 35.
    Pavri PN, Mutalik GS, Rolluri RV et al. Cytogenetic studies in abnormal sex phenotypes. In : Medical genetics in India. I.C. Verma (editor) Pondichery India, pp 153–156.Google Scholar
  36. 36.
    Husain SA, Bamezai R. Chromosomal abnormalities and hormonal profile in abnormal sexual development National Seminar on Cell Biology, Mysore, Feb 16–18,1989, Abst 53. pp 42.Google Scholar
  37. 37.
    Naryanan HS, Thomas IM, Rao B.S.S. Jayakumari RN. Clinical, biochemical, cy-togenetic studies in selected cases of men-tal retardation. 5the Annual Conference of Indian Society of Human Genetics, Bom-bay, Dec. 19–23, 1978. pp 34.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 1990

Authors and Affiliations

  • V. C. Shah
    • 1
  • D. S. Krishna Mutiny
    • 1
  • Sabita K. Murthy
    • 1
  1. 1.Department of Zoology (Cell Biology)University School of Sciences,Gujarat UniversityAhmedabad

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