title: Etiology and recurrence risk in Rubinstein-Taybi syndrome.
abstract: Epidemiologic data on 45 patients with Rubinstein-Taybi syndrome from the Netherlands and 50 patients from the USA are compared with data from 407 patients reported in the literature. The 502 probands had a total of 708 sibs, including one probable recurrence. In 12 of 13 proven or possible monozygotic twins both children were affected. Two patients have reproduced with one affected and 2 normal offspring. The empiric recurrence risk figure for sibs is 0.1%. The recurrence risk for offspring of affected individuals could be as high as 50%. The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic cause. No consistent chromosome anomaly was found. An autosomal dominant mutation, either as submicroscopic chromosome deletion or duplication, or a point mutation seems the most likely explanation.
authors.affiliation: Department of Pediatrics, University of Utah Medical Center, Salt Lake City.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: C A
authors.initials: CA
authors.lastname: Stevens
authors.forename: J J
authors.initials: JJ
authors.lastname: Van de Kamp
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004200:Diseases in Twins / Q000453:epidemiology / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D012415:Rubinstein-Taybi Syndrome / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D013723:Teratogens / Q000633:toxicity; D014481:United States / Q000453:epidemiology
chemical_list: D013723:Teratogens