Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

TitleArray based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsHoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE
JournalJournal of medical genetics
Volume42
Issue1
Pagination49-53
Date Published2005 Jan
Abstract

BACKGROUND: Kabuki (Niikawa-Kuroki) syndrome comprises a characteristic facial appearance, cleft palatei, congenitali heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22-p23.1 in 13/13 patients. OBJECTIVE: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. METHODS: An 8p duplication was sought using two independent methods--array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)--in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. RESULTS: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. CONCLUSIONS: 8p22-p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.

Alternate JournalJ. Med. Genet.
Citation Key15635075