PT - JOURNAL ARTICLE AU - S A Lynch AU - K A Ashcroft AU - S Zwolinski AU - C Clarke AU - J Burn TI - Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. AID - 10.1136/jmg.32.3.227 DP - 1995 Mar 01 TA - Journal of Medical Genetics PG - 227--230 VI - 32 IP - 3 4099 - http://jmg.bmj.com/content/32/3/227.short 4100 - http://jmg.bmj.com/content/32/3/227.full SO - J Med Genet1995 Mar 01; 32 AB - We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.