Rubinstein-Taybi is a well-defined syndrome characterised by short stature, mental retardation, facial abnormalities, and broad thumbs and first toes1.
This condition was described in 19572 but a larger series of cases described in 1963 by Rubinstein and Taybi1 led to the current syndrome name. It is an autosomal-dominant disorder with a frequency of 1 in 100,000 newborns3. The Rubinstein-Taybi syndrome (RTS) locus resides in chromosome band 16p13.3 and includes a gene encoding a cAMP response element binding protein (CREBBP)4. This gene spans approximately 150kb4 and dosage abnormalities are the common cause of RTS5, with microdeletions of this region accounting for 10-15% of cases5. Disruptions of CREBBP, by either gross chromosomal rearrangements or point mutations, have also been shown to be responsible for Rubinstein-Taybi syndrome4,6.
1. Rubinstein JH, Taybi H, Am J Dis Child 1963;105:588-608
2. Matsoukas and Theodorou Chir Orthop Reparatrice Apar Mot 1957;43:142-6
3. Jacobs et al., Clin Ophthalmol. 2012; 6: 1369–1371
4. Petrij F et al., J Med Genet 2000;37(3):168-76
5. Stef M et al., Eur J Hum Genet 2007;15(8):843-7
6. Bartsch O et al., Eur J Hum Genet 1999;7(7):748-56
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.