Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

TitleKabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
Publication TypeJournal Article
Year of Publication1995
AuthorsLynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J
JournalJournal of medical genetics
Volume32
Issue3
Pagination227-30
Date Published1995 Mar
Abstract

We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palatei and coarctationi of the aortai. 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 chromosomei 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.

Alternate JournalJ. Med. Genet.
Citation Key7783176