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Rubinstein-Taybi

Applications
constitutional
Catalogue Numbers
LPU 023 (10 tests)
LPU 023-S (5 tests)

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.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience

References

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

Microscope Images

Rubinstein Taybi magnified

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.