RT Journal Article
SR Electronic
T1 Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 227
OP 230
DO 10.1136/jmg.32.3.227
VO 32
IS 3
A1 S A Lynch
A1 K A Ashcroft
A1 S Zwolinski
A1 C Clarke
A1 J Burn
YR 1995
UL http://jmg.bmj.com/content/32/3/227.abstract
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.