RT Journal Article SR Electronic T1 Monozygotic twins discordant for rubinstein-taybi syndrome. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 312 OP 314 DO 10.1136/jmg.18.4.312 VO 18 IS 4 A1 T Kajii A1 K Hagiwara A1 M Tsukahara A1 H Nakajima A1 Y Fukuda YR 1981 UL http://jmg.bmj.com/content/18/4/312.abstract AB A pair of male monozygotic twins discordant for Rubinstein-Taybi syndrome is reported. Monozygosity of the twins was established using blood grouping, typing of serum proteins, isozymes, HLA, and chromosomal heteromorphisms. The twins are the first twin pair discordant for the syndrome in which monozygosity has been firmly established. The pathogenesis of the syndrome is discussed in relation to the occurrence of both discordant and concordant monozygotic twins.