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Research Article
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
  1. S A Lynch,
  2. K A Ashcroft,
  3. S Zwolinski,
  4. C Clarke,
  5. J Burn
  1. Department of Human Genetics, University of Newcastle upon Tyne, UK.

    Abstract

    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.

    https://doi.org/10.1136/jmg.32.3.227

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