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A Family with a Balanced C/C Translocation Carrier and an Unbalanced 47, XY, (Cq−) + Son1

Published online by Cambridge University Press:  01 August 2014

G. Guanti ,
E. Battaglia ,
P. Petrinelli  and
N. Riggillo
G. Guanti*
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
E. Battaglia
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
P. Petrinelli
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
N. Riggillo
Affiliation:
Institute of Genetics of the, University of Bari Institute of Clinical Pediatrics of the, University of Bari
*
Istituto di Genetica dell'Università, Via Amendola 165a, 70126 Bari, Italy

Summary

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An account is given of a family identified by a newborn malformed male. The chromosome anomalies described are interpreted as indicating that the father has a balanced translocation with a reciprocal exchange between no. 9 and no. 12. The supernumerary chromosome resembling a group F element, which is found in the propositus, is in fact one of the two rearranged chromosomes present in the father. The propositus therefore is trisomic for part of no. 9 and no. 12. His brother has a normal karyotype. Possible meiotic situations leading to the formation of the observed karyotypes are discussed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 20 , Issue 3 , July 1971 , pp. 245 - 255
Copyright
Copyright © The International Society for Twin Studies 1971

Footnotes

1

This work was supported by a research grant from the National Council of Research (C.N.R.).

References

Bargman, G. J., Neu, R. L., Powers, H. O., Gardner, L. I. (1970). A 46, XX, t(Cp-+; Cq−) translocation in a girl with multiple congenital anomalies and in her phenotypically normal father 46, XY, t(Gp+; Cq−). J. Med. Genet., 7: 77–80.Google Scholar
Buhler, U. K., Buhler, E. M., Sartorius, J., Stalder, G. R. (1967). Multiple Missbildungen bei partieller Trisomie G(12) als Manifestation einer erblichen E/C (18/12) Translokation. Helv. Paediatr. Acta, 22: 41–53.Google Scholar
Butler, L. J., Eades, S. M., France, N. E. (1969). Transmission of a translocation t(Cp+; Dq−) through three generations, including an example of probable trisomy for the short arm of the G group chromosome No. 9. Ann. Genet. (Paris), 12: 15–27.Google Scholar
De Grouchy, J., Canet, J. (1965). Translocation 6-12 ~ 13-15 et trisomie partielle 6-12 probablement 10. Ann. Genet. (Paris), 8: 16–20.Google Scholar
De Grouchy, J., Roy, C., Lachance, R., Frézal, J., Lamy, M. (1967a). Trisomie partielle C par translocation t(Cq−; Bp+). Arch. Fr. Pediatr., 24: 849–858.Google Scholar
De Grouchy, J., Thieffry, S., Aicardi, J., Chevrie, J. J., Zucker, G. (1967b). Trisomie partielle G par translocation t(Cp−; Dp+) et remaniement d'un C(p−q+). Arch. Fr. Pediatr., 24: 859–868.Google Scholar
Deminatti, M., Maillard, E., Gosselin, B., Peltier, J. M., Bulteel, M. F., Dupuis, C. (1969). Trisomie partielle C par translocation t(Cp−; Gp+). Ann. Genet. (Paris), 12: 36–45.Google Scholar
Edwards, J. H., Fraccaro, M., Davies, P., Young, R. B. (1962). Structural heterozygosis in man: analysis in two families. Ann. Hum. Genet., 26: 163–178.Google Scholar
Gray, J. E., Dartnall, J. A., Creery, R. D. G., Croudace, J. (1966a). Congenital anomalies due to transmission of a chromosome translocation. J. Med. Genet., 3: 59–61.Google Scholar
Gray, J. E., Dartnall, J. A., MacNamara, B. G. P. (1966b). A family showing transmission of a translocation between a 6-12 chromosome and a 21-22 chromosome. J. Med. Genet., 3: 62–65.Google Scholar
Jensen, K. M., Melchior, J. C. (1967). Possible partial trisomy of a chromosome of group 6-X-12 and familial translocation heterozygosity in a child with congenital abnormalities. Dev. Med. Child Neurol., 9: 313–318.Google Scholar
Lejeune, J., Berger, R. (1965). Sur deux observations familiales de translocations complexes. Ann. Genet. (Paris), 8: 21–30.Google Scholar
Lejeune, J., Berger, R., Rethore, M. O., Salmon, Ch., Kaplan, M. (1966). Translocation Cc~F familiale determinant une trisomie pour le bras court du chromosome 12. Ann. Genet. (Paris), 9: 12–18.Google Scholar
Lejeune, J., Rethore, M. O., Berger, R., Abonyi, D., Dutrillaux, B., See, G. (1968). Trisomie C partielle par translocation familiale t(Cq+; Cq−). Ann. Genet. (Paris), 11: 171–175.Google Scholar
Lindsten, J., Fragcaro, M., Klinger, H. P., Zetterqvist, P. (1965). Meiotic and mitotic studies of a familial reciprocal translocation between two autosomes of group 6-12. Cytogenetics, 4: 45–64.Google Scholar
Lord, P. M., Casey, M. D., Laurance, B. M. (1967). A new translocation between chromosomes in the 6-12 and 21-22 groups. J. Med. Genet., 4: 169–176.Google Scholar
Lozzio, C. R., Kattine, A. A. (1969). Familial transmission of a chromosomal translocation t(2q+; Cp−). J. Med. Genet., 6: 174–179.Google Scholar
McDermott, A., Insley, J., Rushton, D. J., Edwards, J. H. (1968). Two familial translocations involving the 6-12 group, with meiotic studies in one. Teratology, 1: 135–151.Google Scholar
Mikkelsen, M., Mortensen, E., Skakkebaek, N. E., Yssing, M. (1968). Familial reciprocal translocation between a G group (12?) chromosome and a late labelling G chromosome. Acta Genet. (Basel), 18: 241–250.Google Scholar
Pitt, D. B., Webb, G. C., Wong, J., Robson, M. K., Ferguson, J. (1967). A case of translocation (C/14) with mental retardation in two offsprings. J. Med. Genet., 4: 177–183.Google Scholar
Punnett, H. H., Pinsky, L., Digeorge, A. M., Gorlin, R. J. (1966). Familial reciprocal C/18 translocation. Am. J. Hum. Genet., 18: 572–583.Google Scholar
Rohde, R. A., Catz, B. (1964). Maternal transmission of a new group-C(6/9) chromosomal syndrome. Lancet, 2: 838–840.Google Scholar
Stahl, A., Luciani, J. M., Nicolino, J., Mattei, A., Vague, J. (1966). Hypotrophie testiculaire primitive. Caryotype XY avec translocation 12~10. Ann. Endocrinol. (Paris), 27: 155–160.Google Scholar
Thorburn, M. J., McNeil, Smith-Read E. M., Peck, J. E. (1969). A translocation t(Bq+; Cq−) in a West Indian family and a report of a second family showing a possible long arm group B translocation. Arch. Dis. Child., 44: 106–112.Google Scholar