Human afflictions and chromosomal aberrations / Raymond Turpin and Jérôme Lejeune.

  • Turpin, Raymond, 1895-1988
Date:
1969
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Human afflictions and chromosomal aberrations / Raymond Turpin and Jérôme Lejeune. Source: Wellcome Collection.

    102/412 (page 86)
    86 HUMAN AFFLICTIONS AND CHROMOSOMAL ABERRATIONS (f) Trisomy 13 by structural aberration Two cases of translocation through centromeric fusion of two large acro¬ centrics are known giving a karyotype with 45 chromosomes in the transmitter parent and 46 in the trisomie child. In one case, the translocation was transmitted by the mother and found again in her own mother and a maternal uncle (Oikawa et ai, 1962). In another, the translocation was transmitted by the father (Dill and Miller, 1963). This type of translocation is morphologically identical with that in Fig. 7.15 and the rearrangement does not seem in practice to entail the loss of chromosomal sub¬ stance. A terminal translocation of a fragment of a telocentric to another giving a small 13 and a large 13 has been reported by Jacobsen et ai. (1963), in the mother of a child with partial trisomy 13 (iridocoloboma, mental retardation, transverse palmar crease, etc.). This child in fact received the large 13 and two small 13 chromosomes with a karyotype with 47 chromosomes. A morphologically quite comparable large 13 has been previously described by Delhanty and Shapiro (1962) in a microphthalmic mental defective who died at the age of 3 years. An extra chromosome quite comparable with the small 13 was observed by Zellweger et al. (1962c) in a mentally retarded girl whose malformation syn¬ drome was strongly suggestive of trisomy 13 (harelip, cleft palate, abnormal ears, haemangioma, etc.). The same authors report another clinically suggestive case whose sole karyotypic anomaly was the presence of a quite well-developed small short arm on one (13-15) chromosome. A syndrome suggestive of trisomy 13 (with, in addition, absence of left thumb and rudiment on the right) in a girl presenting five normal acrocentrics plus a small acrocentric sometimes rearranged in a ring was reported by Bain and Gauld (1963). Finally, Wallace and Anderson (1963) observed a probable translocation from a (13-15) to a (4 or 5) in a 34-year-old anophthalmic men¬ tally retarded female with a bilateral harelip, fused fingers and toes and a transverse palmar crease. The hypothesis of partial trisomy was also suggested here. A case of 46/47 mosaic through presence of a large extra acrocentric has been reported by Warkany et al. (1962 c) in a malformed subject presenting an in¬ complete trisomy 13 syndrome. (g) Combined forms Two cases of association of trisomy 13 with a trisomy for a small unidentified acrocentric 21 or 22, or a fragment of another chromosome, have been reported, one in a boy (Gustavson et al, 1962), the other in a girl (Becker et al, 1963). Simple summation of the symptoms of each of the two chromosomal syndromes (for example, trisomy 13 and trisomy 21) is not obvious in these two cases.