Etiology and recurrence risk in Rubinstein-Taybi syndrome

American Journal of Medical Genetics. Supplement
R C HennekamJ J Van de Kamp

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.

References

May 1, 1978·The Journal of Pediatrics·D M JonasA R Ablin
Dec 1, 1979·The Journal of Pediatrics·A A SchinzelJ R Miller
Mar 1, 1975·Journal of Medical Genetics·F P GarciaD Gribetz
Apr 1, 1989·American Journal of Medical Genetics·E Bonioli, C Bellini
Feb 1, 1989·European Journal of Pediatrics·R C HennekamT M Jansen-Kokx
Sep 1, 1987·Journal of Medical Genetics·A C Berry
Jan 1, 1987·American Journal of Medical Genetics·P CotsirilosR Matalon
Dec 1, 1985·Developmental Medicine and Child Neurology·D R Gillies, S H Roussounis
Dec 1, 1972·American Journal of Diseases of Children·V M Der KaloustianJ Mire
Sep 1, 1967·Acta paediatrica Scandinavica·H H van GelderenA Schaberg
Jan 1, 1972·Clinical Genetics·G Filippi
Jan 1, 1971·American Journal of Diseases of Children·B RohlfingE B Singleton
Oct 1, 1967·Developmental Medicine and Child Neurology·B C DavisonD F Roberts
Feb 1, 1968·Archives of Disease in Childhood·C J PadfieldN E Simpson
Feb 1, 1968·Archives of Disease in Childhood·M A Salmon
Sep 1, 1968·The Journal of Pediatrics·M G Wilson
Jan 1, 1966·American Journal of Diseases of Children·T Kushnick
Apr 1, 1983·Clinical Genetics·M Baraitser, M A Preece
Jan 1, 1983·Clinical Genetics·E A WulfsbergR S Sparkes
Aug 1, 1981·Journal of Medical Genetics·T KajiiY Fukuda
Sep 1, 1980·Clinical and Experimental Dermatology·A GoodfellowH T Calvert
Jun 1, 1963·American Journal of Diseases of Children·J H RUBINSTEIN, H TAYBI

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Citations

Jun 9, 2006·International Journal of Paediatric Dentistry·N M FreitasF E Pustiglioni
Jan 12, 2019·Clinical Genetics·Julien Van-GilsPatricia Fergelot
Mar 1, 1994·Pediatric Dermatology·S CambiaghiR Caputo

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