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Short Arm Enlargement in a G Chromosome

Published online by Cambridge University Press:  01 August 2014

J. François ,
M. Th. Matton-Van Leuven  and
R. Coppieters
J. François
Affiliation:
Dept. of Human Genetics, Ophthalmological Clinic of the University, Ghent
M. Th. Matton-Van Leuven
Affiliation:
Dept. of Human Genetics, Ophthalmological Clinic of the University, Ghent
R. Coppieters
Affiliation:
Dept. of Human Genetics, Ophthalmological Clinic of the University, Ghent

Summary

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The authors report three cases of enlargement in length of the short arm of a G chromosome: in a mother and her trisomy 21 son, and in a child with congenital glaucoma and systemic malformations. They discuss the nature of this odd chromosome. The latter can represent altered chromosomal behavior of anomalous coiling, but it is quite possible that it represents a translocation. The authors observed another case of congenital glaucoma with short arm enlargement in a G chromosome.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 17 , Issue 3 , July 1968 , pp. 468 - 486
Copyright
Copyright © The International Society for Twin Studies 1968

References

Aarskog, D. (1966). A new cytogenetic variant of translocation Down's syndrome. Cytogenetics, 5: 82–87.Google Scholar
Carr, D. H. (1963). Chromosomal abnormalities and their relation to disease. Canad. Mes. Ass. J., 88: 456–461.Google Scholar
Cooper, H. L., Hirschhorn, K. (1962). Enlarged satellites as a familial chromosome marker. Amer. J. Hum. Genet., 14: 107–124.Google Scholar
Court Brown, W. M., Jacobs, P. A., Brunton, M. (1965). Chromosome studies on randomly chosen men and women. Lancet, 2: 561.CrossRefGoogle Scholar
Court Brown, W. M. et al. (1966). Chromosome studies on adults. Eugenics Laboratory Memoirs XLII: 91, Cambridge University.Google Scholar
De Grouchy, J., Thieffry, S., Arthuis, M., Gerbeaux, J., Poupinet, S., Salmon, Ch., Lamy, M. (1964). Chromosomes marqueurs familiaux et aneuploïdie. Rôle possible de l'interaction chromosomique. Ann. Genet., 7: 76–83.Google Scholar
De Grouchy, J., De Nava, C., Bilski-Pasquier, G., Bousser, J. (1966). Chromosome Ph1 et perte de petits acrocentriques dans une leucémie myéloïde chronique à évolution prolongée chez un homme. Ann. Genet., 9: 73.Google Scholar
Dekaban, A. S., Bender, M. A. and Economos, G. (1963). Chromosome studies in mongoloids and their families. Cytogenetics, 2: 61–75.Google Scholar
De la Chapelle, A., Aula, P., Kivalo, E. (1963). Enlarged short arm or satellite region. A heritable trait probably. Cytogenetics, 2: 129–139.Google Scholar
Edgren, J., De la Chapelle, A., Kääriäinen, (1966). Cytogenetic study of seventy-three patients with Down's syndrome. J. Ment. Def. Res., 10: 47–62.Google Scholar
Gray, J. E., Mutton, D. E., Ashby, D. W. (1962). Pericentric inversion of chromosome 21. A possible further cytogenetic mechanism in mongolism. Lancet, 1: 21–23.CrossRefGoogle ScholarPubMed
Gustavson, K. H., Finley, S. C., Finley, W. H., Jalling, B. (1964). A 4-5/21-22 chromosomal translocation associated with multiple congenital anomalies. Acta Paediat., 53: 172–181.Google Scholar
Hamerton, J. L., Giannelli, F., Polani, P. E. (1965). Cytogenetics of Down's syndrome (mongolism). I. Data on a consecutive series of patients referred for genetic counseling and diagnosis. Cytogenetics, 4: 171.Google Scholar
Lejeune, J., Lafourcade, J., Salmon, Ch., Turpin, R. (1963). Translocation familiale 2/22. Association à un syndrome de Turner haplo X. Ann. Genet., 6: 3.Google Scholar
Maganias, N. H., Archambault, L., Becker, K. L., Winnacker, J. L. (1967). A 1/G translocation in a member of a kindred with a marker chromosome. Arch. Intern. Med., 119: 297–301.Google Scholar
Moorhead, P. S., Mellman, W. J., Wenar, C. (1961). A familial chromosome translocation associated with speech and mental retardation. Amer. J. Hum. Genet., 13: 32–46.Google Scholar
Ruffie, J., Geraud, J., Ducos, J., Benezet, A. M., Colombies, P. (1965). Découverte d'un chromosome marqueur familial lors de l'étude cytogénétique d'un enfant atteint d'une forme grave de myopathie. Ann. Genet., 8: 89–91.Google Scholar
Schmid, W. (1962). A familial chromosome abnormality associated with repeated abortions. Cytogenetics, 1: 199–209.Google Scholar
Starkman, M. N., Shaw, M. W. (1967). Atypical acrocentric chromosomes in negro and Caucasian mongols. Amer. J. Hum. Genet., 19: 162–173.Google Scholar
Therkelsen, A. J. (1964). Enlarged short arm of a small acrocentric chromosome in grandfather, mother and child, the latter with Down's syndrome. Cytogenetics, 3: 441–451.Google Scholar
Tjio, J. H., Puck, T. T., Robinson, A. (1960). The human chromosomal satellites in normal persons and in two patients with Marfan's syndrome. Proc. Nat. Acad. Sci., Wash., 46: 532–539.Google Scholar
Van Wijck, J. A. M., Tijdink, G. A. J., Stolte, L. A. M. (1961). A case of partial trisomy. Lancet, 2: 1454.Google Scholar