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Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population

Wallerstein, Robert and Anderson, Carol E. and Hay, Beverly and Gupta, Pawan and Gibas, Longina and Ansari, Kamran and Cowchock, F. Susan and Weinblatt, Vivian and Reid, Cheryl and Levitas, Andrew and Jackson, Laird (1997) Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. Journal of Medical Genetics, 34 (3). pp. 203-206. ISSN 1468-6244. https://resolver.caltech.edu/CaltechAUTHORS:20200421-133910268

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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.


Item Type:Article
Related URLs:
URLURL TypeDescription
https://doi.org/10.1136/jmg.34.3.203DOIArticle
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.
Subject Keywords:Rubinstein-Taybi syndrome; chromosome 16p deletions; clinical features; fluorescent in situ hybridisation
Issue or Number:3
Record Number:CaltechAUTHORS:20200421-133910268
Persistent URL:https://resolver.caltech.edu/CaltechAUTHORS:20200421-133910268
Official Citation:Wallerstein R, Anderson CE, Hay B, et alSubmicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population. Journal of Medical Genetics 1997; 34:203-206; doi: 10.1136/jmg.34.3.203
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:102704
Collection:CaltechAUTHORS
Deposited By: Tony Diaz
Deposited On:21 Apr 2020 21:52
Last Modified:28 Aug 2020 18:00

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