PT  - JOURNAL ARTICLE
AU  - R Wallerstein
AU  - C E Anderson
AU  - B Hay
AU  - P Gupta
AU  - L Gibas
AU  - K Ansari
AU  - F S Cowchock
AU  - V Weinblatt
AU  - C Reid
AU  - A Levitas
AU  - L Jackson
TI  - Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.
AID  - 10.1136/jmg.34.3.203
DP  - 1997 Mar 01
TA  - Journal of Medical Genetics
PG  - 203--206
VI  - 34
IP  - 3
4099  - http://jmg.bmj.com/content/34/3/203.short
4100  - http://jmg.bmj.com/content/34/3/203.full
SO  - J Med Genet1997 Mar 01; 34
AB  - 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.