Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population
Abstract
Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region in RTS patients led us to screen a large cohort of affected subjects using the RT1 probe. Among 64 patients with clinical evidence of RTS, seven (11%) had a deletion. Another patient had a translocation of the region without evidence of a deletion. The features of coloboma, growth retardation, naevus flammeus, and hypotonia have a positive predictive value for the presence of an RT1 deletion. Because of the relatively low frequency of deletions in RTS, the RT1 probe is useful in diagnostic confirmation, but has limited use as a screening tool.
Additional Information
© 1997 BMJ Publishing Group Ltd. We thank Dr Fred Petrij for allowing us to use the RT1 probe, Lorrie Baxter and the Rubinstein-Taybi Parent Group without whose interest this project would not have been possible, Dr Cathy Stevens, Ms Sarah Richter, Dr Thad Kelly, Ms Linda Nicholson, Dr Charles I Scott Jr, Ms Lori Reid, and Dr Lou Bartoshesky for clinical assistance, and Ms Marge Sherwood for technical assistance.Attached Files
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- Eprint ID
- 102704
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- CaltechAUTHORS:20200421-133910268
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2020-04-21Created from EPrint's datestamp field
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2021-11-16Created from EPrint's last_modified field