Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome
- 1 December 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 53 (4) , 352-354
- https://doi.org/10.1002/ajmg.1320530409
Abstract
In a series of 25 Japanese patients with Rubinstein‐Taybi syndrome, we screened, by high‐resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high‐resolution banding.Keywords
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