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. 1993 Feb;52(2):249–254.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Martijn H Breuning, Hans G Dauwerse, Gluseppina Fugazza, Jasper J Saris, Lia Spruit, Herman Wijnen, Niels Tommerup, C B van der Hagen, Kiyoshi Imaizumi, Yoshikazu Kuroki, Marie-Jose van den Boogaard, Joke M de Pater, Edwin C M Mariman, Ben C J Hamel, Heinz Himmelbauer, Anne-Marie Frischauf, Raymond L Stallings, Geoffrey C Beverstock, Gert-Jan B van Ommen, Raoul C M Hennekam
PMCID: PMC1682202  PMID: 8430691

Abstract

The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16pl3.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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