Hostname: page-component-669899f699-rg895 Total loading time: 0 Render date: 2025-04-25T03:17:17.318Z Has data issue: false hasContentIssue false
  • English
  • Français

Trisomy 2q

Published online by Cambridge University Press:  27 January 2025

B. Dallapiccola ,
A. Forabosco  and
A. Calabro
B. Dallapiccola*
Affiliation:
Department of Medical Genetics, University of Rome, Italy
A. Forabosco
Affiliation:
Department of Human Normal Anatomy, University of Modena, Italy
A. Calabro
Affiliation:
Department of Medical Genetics, University of Rome, Italy
*
Cattedra di Genetica Medica, Ospedale L. Spallanzani, Via Portuense 292, 00149 Roma, Italy

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Two unrelated patients with trisomy 2q32 → q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Comparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.

Type
Short Notes
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 24 , Issue 3-4 , October 1975 , pp. 307 - 310
Copyright
Copyright © The International Society for Twin Studies 1975

References

REFERENCES

Davison, B.C., Bedford, J., Dunn, W. 1970. t(2q−; Dq+) in a mentally retarded female child. J. Med. Genet., 7:81–82.CrossRefGoogle Scholar
Fitzgerald, M.G. 1974. Balanced (2q−; 14q+) translocation. Aust. Paediatr. J., 10: 180–183.Google Scholar
Forabosco, A., Dutrillaux, B., Toni, G., Tamborino, G., Cavazzuti, G. 1973. Translocation équilibrée t(2; 13)(q23;q33) familial et trisomie 2q partielle. Ann. Genet., 16: 255–258.Google Scholar
Genest, P., Lachance, R., Poty, J., Jacob, D. 1971. Autosomal translocation in a mentally retarded male child with 46,XY,t(2q−; 13q+) complement: case report and review. J. Med. Genet., 8: 504–508.CrossRefGoogle Scholar
Laurent, C., Noël, B., David, M. 1971. Essai de classification de déletions du bras long d'un chromosome du group D. A propos d'un cas 15q—. Ann. Genet., 14: 33–40.Google Scholar
Lisco, E., Lisco, H. 1967. A case of balanced 2/D translocation. Ann. Genet., 10: 42.Google ScholarPubMed
Reisman, L.E., Kasahara, S. 1968. An unusual chromosome abnormality: 2/D translocation. Am. J. Dis. Child., 115: 625–628.CrossRefGoogle ScholarPubMed
Ricci, N., Dallapiccola, B., Cotti, G. 1968. Translocation 2-D familiale. Ann. Genet., 11: 111–113.Google Scholar
Wurster, D.H., Hoefhagel, D., Benirschke, K., Allen, F.H. 1969. Placental chroragiomata and mental deficiency in a child with 2/15 translocation: 46,XX,t(2q−; 15q+). Cytogenetics, 8: 389–399.CrossRefGoogle Scholar