Abstract
We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,-9,+der(9),t(9;16)(p24;q13)]. Parental chromosome analysis showed a balanced maternal translocation [46,XX,t(9;16)(p24;q13)]. Three other cases of translocations involving chromosomes 9 and 16 have been reported, one of them with identical breakpoints. A review of published reports of deletion 9p and duplication 16q is presented, and a comparison is made with previously described cases.
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.
- Alfi O., Donnell G. N., Crandall B. F., Derencsenyi A., Menon R. Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. Ann Genet. 1973 Mar;16(1):17–22. [PubMed] [Google Scholar]
- Buckton K. E., Barr D. G. Partial trisomy for long arm of chromosome 16. J Med Genet. 1981 Dec;18(6):483–483. doi: 10.1136/jmg.18.6.483. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Garau A., Crisponi G., Peretti D., Vanni R., Zuffardi O. Trisomy 16q21 = to qter. Hum Genet. 1980 Feb;53(2):165–167. doi: 10.1007/BF00273489. [DOI] [PubMed] [Google Scholar]
- Huret J. L., Leonard C., Forestier B., Rethoré M. O., Lejeune J. Eleven new cases of del(9p) and features from 80 cases. J Med Genet. 1988 Nov;25(11):741–749. doi: 10.1136/jmg.25.11.741. [DOI] [PMC free article] [PubMed] [Google Scholar]