Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
case_report · Level V
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- Record sourced from PubMed, PMID 7783176.
- Also identified by PMC identifier 1050324.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 13
- Diseases in Twins