title: Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
authors.forename: K A
authors.initials: KA
authors.lastname: Ashcroft
authors.forename: S
authors.initials: S
authors.lastname: Zwolinski
authors.forename: C
authors.initials: C
authors.lastname: Clarke
authors.forename: J
authors.initials: J
authors.lastname: Burn
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002423:Cause of Death; D002460:Cell Line; D002478:Cells, Cultured; D002503:Centromere / Q000235:genetics; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003582:Cytogenetics; D004200:Diseases in Twins / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005138:Eyebrows / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013577:Syndrome; D014430:Twins, Monozygotic