Abstract
We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.
Full text
PDF



Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Faed M., Robertson J., Brown S., Smail P. J., Muckhart R. D. Pure partial trisomy for long arm of chromosome 9. J Med Genet. 1976 Jun;13(3):239–242. doi: 10.1136/jmg.13.3.239. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kushnick T., Rao K. W., Lamb A. N. Familial 5p- syndrome. Clin Genet. 1984 Nov;26(5):472–476. doi: 10.1111/j.1399-0004.1984.tb01091.x. [DOI] [PubMed] [Google Scholar]
- Nakahori Y., Nakagome Y. A malformed girl with duplication of chromosome 9q. J Med Genet. 1984 Oct;21(5):387–388. doi: 10.1136/jmg.21.5.387. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16;44(3):227–275. doi: 10.1007/BF00394291. [DOI] [PubMed] [Google Scholar]
- Turleau C., de Grouchy J., Chavin-Colin F., Roubin M., Brissaud P. E., Repessé G., Safar A., Borniche P. Partial trisomy 9q: a new syndrome. Humangenetik. 1975 Sep 23;29(3):233–241. doi: 10.1007/BF00297629. [DOI] [PubMed] [Google Scholar]
- Walker J. L., Blank C. E., Smith B. A. Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet. 1984 Dec;21(6):465–467. doi: 10.1136/jmg.21.6.465. [DOI] [PMC free article] [PubMed] [Google Scholar]


