title: 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.
authors.affiliation: Division of Medical Genetics, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: C E
authors.initials: CE
authors.lastname: Anderson
authors.forename: B
authors.initials: B
authors.lastname: Hay
authors.forename: P
authors.initials: P
authors.lastname: Gupta
authors.forename: L
authors.initials: L
authors.lastname: Gibas
authors.forename: K
authors.initials: K
authors.lastname: Ansari
authors.forename: F S
authors.initials: FS
authors.lastname: Cowchock
authors.forename: V
authors.initials: V
authors.lastname: Weinblatt
authors.forename: C
authors.initials: C
authors.lastname: Reid
authors.forename: A
authors.initials: A
authors.lastname: Levitas
authors.forename: L
authors.initials: L
authors.lastname: Jackson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009656:North America; D011237:Predictive Value of Tests; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics