A 3-year cytogenetic survey of 9661 patients in South Africa

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dc.contributor.advisor Retief, A. E.
dc.contributor.advisor Bernstein, Renee
dc.contributor.advisor Grace, H. J.
dc.contributor.advisor Nelson, Matilda M.
dc.contributor.advisor Jansen, S.
dc.contributor.advisor Benjamin, Mercy
dc.contributor.author Bester, Rina
dc.contributor.author Benjamin, Mercy
dc.date.accessioned 2011-03-18T14:57:42Z
dc.date.available 2011-03-18T14:57:42Z
dc.date.issued 1983
dc.identifier.citation Retief, A.E., Bernstein, R. & Grace, H.J. 1983, A 3-year cytogenetic survey of 9661 patients in South Africa, SA Medical Journal, 63(8), 48-53, http://archive.samj.org.za/
dc.identifier.issn 0256-9574 (print)
dc.identifier.issn 2078-5135 (online)
dc.identifier.uri http://hdl.handle.net/10019.1/7599
dc.description The original publication is available at http://www.samj.org.za
dc.description Bibliography
dc.description.abstract During the period 1 January 1977 - 31 December 1979, 9661 patients underwent cytogenetic investigation at seven participating laboratories in South Africa. The chromosome data were coded using a standard protocol and the results tabulated, being listed according to the clinical signs which led to referral for investigation. Cytogenetic investigation was most commonly requested for prenatal studies, and 22% of the group's effort was directed towards this. One in 27 amniotic cell specimens was reported to have shown anomalous chromosomes, trisomy 21 being the most frequent abnormality. The majority of postnatal investigations were requested because congenital abnormalities suggested an underlying chromosomal defect. In 42.3% of 2420 patients a chromosome defect was confirmed. Results of chromosome studies are tabulated by indication for referral and the findings summarized. This collaborative study gives an indication of the nature and frequency of chromosome disorders in South Africa.
dc.format.extent p. 48-53
dc.language.iso en_ZA
dc.publisher Health and Medical Publishing Group (HMPG)
dc.subject Chromosome aberration; chromosome analysis; clinical article; congenital disorder; congenital malformation; diagnosis; epidemiology; etiology; fetus; geographic distribution; heredity; histology; human; incidence; infertility; pregnancy; prenatal diagnosis; Chromosome Aberrations; Chromosome Disorders; Female; Human; Karyotyping; Male; Pregnancy; Prenatal Diagnosis; Sex Chromosome Aberrations; South Africa
dc.subject Chromosome abnormalities en_ZA
dc.subject Chromosome disorders -- Diagnosis -- South Africa en_ZA
dc.title A 3-year cytogenetic survey of 9661 patients in South Africa
dc.type Article
dc.description.version Article
dc.rights.holder Health and Medical Publishing Group (HMPG)


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