Abstract
We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.
Full text
PDFSelected References
These references are in PubMed. This may not be the complete list of references from this article.
- Hennekam R. C., Stevens C. A., Van de Kamp J. J. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56–64. doi: 10.1002/ajmg.1320370610. [DOI] [PubMed] [Google Scholar]
- Hennekam R. C., Tilanus M., Hamel B. C., Voshart-van Heeren H., Mariman E. C., van Beersum S. E., van den Boogaard M. J., Breuning M. H. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet. 1993 Feb;52(2):255–262. [PMC free article] [PubMed] [Google Scholar]
- Imaizumi K., Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet. 1991 Mar 15;38(4):636–639. doi: 10.1002/ajmg.1320380430. [DOI] [PubMed] [Google Scholar]
- Lacombe D., Saura R., Taine L., Battin J. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet. 1992 Sep 1;44(1):126–128. doi: 10.1002/ajmg.1320440134. [DOI] [PubMed] [Google Scholar]
- Masuno M., Imaizumi K., Kurosawa K., Makita Y., Petrij F., Dauwerse H. G., Breuning M. H., Kuroki Y. Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Am J Med Genet. 1994 Dec 1;53(4):352–354. doi: 10.1002/ajmg.1320530409. [DOI] [PubMed] [Google Scholar]
- RUBINSTEIN J. H., TAYBI H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963 Jun;105:588–608. doi: 10.1001/archpedi.1963.02080040590010. [DOI] [PubMed] [Google Scholar]