Browsing by Author "Van Heerden, K. M. M."

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    The antenatal ultrasonographic detection of the Holt-Oram syndrome
    (Health and Medical Publishing Group -- HMPG, 1985-08) Muller, L. M.; De Jong, G.; Van Heerden, K. M. M.
    The Holt-Oram syndrome is an autosomal dominant disease with 100% penetrance. No correlation exists between the maternal clinical expression and that of the affected offspring. The syndrome includes a wide range of cardiac and skeletal malformations. Real-time ultrasound, with a detailed study of the fetal heart and skeletal system, can play a crucial role in the counselling of affected pregnant women. This study describes the ultrasonographic findings of 2 affected fetuses at risk (at 34 and 14 weeks' gestational age). Ultrasonography detected and correctly estimated the severity of the cardiac and skeletal expressions.
  • Thumbnail Image
    Item
    Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases
    (Health & Medical Publishing Group, 1986-6) Van Heerden, K. M. M.; De Jong, G.; Fox, M. F.; Kotze, G. M.; Brusnicky, J.; Dietzsch, E.; Grobbelaar, J. J.; Retief, A. E.
    ENGLISH ABSTRACT: Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be carrier of the same translocation. In a further patient, the translocation was shown to be de novo and in the remaining patient the father was not available for chromosome studies. In a review of the literature the breakpoints in 36 familial balanced translocations were compared with 40 de novo translocations (including the present cases) all associated with phenotypic abnormalities. No common translocation was found in these groups, but it was observed that chromosomes 4 and 5 were significantly more involved in de novo translocations than in familial translocations. The possible aetiology and implications for prenatal diagnosis are discussed.