BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
<p>Abstract</p> <p>Background</p> <p>Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki...
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| Format: | Book |
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BMC,
2006-05-01T00:00:00Z.
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| Summary: | <p>Abstract</p> <p>Background</p> <p>Kabuki syndrome is a multiple congenital anomaly/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, brachydactyly, scoliosis, and persistence of finger pads. The multiple organ involvement suggests that this is a contiguous gene syndrome but no chromosomal anomalies have been isolated as an etiology. Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached.</p> <p>Methods</p> <p>We used bacterial artificial chromosome-fluorescent <it>in-situ </it>hybridization (BAC-FISH) and G-band analysis to study eight patients with Kabuki syndrome.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>It seems likely that Kabuki syndrome is not a contiguous gene syndrome of the 8p region studied.</p> |
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| Item Description: | 10.1186/1471-2350-7-46 1471-2350 |