BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.

BACKGROUND: Kabuki syndrome is a multiple congenitalⁱ anomalyⁱ/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, brachydactylyⁱ, scoliosisⁱ, and persistence of finger pads. The multiple organ involvement suggests that this is a contiguous geneⁱ syndrome but no chromosomal anomalies have been isolated as an etiologyⁱ. Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached. METHODS: We used bacterial artificial chromosomeⁱ-fluorescent in-situ hybridization (BAC-FISH) and G-band analysis to study eight patients with Kabuki syndrome. RESULTS: Metaphase analysis revealed no deletions or duplications with any of the BAC probes. Interphase studies of the Kabuki patients yielded no evidence of inversions when using three-color FISH across the region. These results agree with other research groups' findings but disagree with the findings of Milunsky and Huang. CONCLUSION: It seems likely that Kabuki syndrome is not a contiguous gene syndrome of the 8p region studied.