Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

TitleUnmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
Publication TypeJournal Article
Year of Publication2003
AuthorsMilunsky JM, Huang XL
JournalClinical genetics
Volume64
Issue6
Pagination509-16
Date Published2003 Dec
Abstract

Kabuki syndrome (KS) is a multiple congenitali anomalies/mental retardation syndrome that heretofore has had an unknown etiologyi. Although several cases with KS features have been reported with different chromosomei anomalies, none have had an autosomal cytogenetic aberration in common. We found an 8p22-8p23.1 duplication, using comparative genomic hybridization (CGH) in six unrelated patients diagnosed with KS. This observation was confirmed using BAC-FISH in all cases that delimited the duplicated region to approximately 3.5 Mb. No duplication of this region was found in two parents or 20 controls by either CGH or BAC-FISH. Two out of two mothers of KS patients and one out of 20 controls were found to have a heterozygous submicroscopic inversion at 8p23.1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder.

Alternate JournalClin. Genet.
Citation Key14986831