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  • Title: Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.
    Author: Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N.
    Journal: Am J Med Genet; 1999 Sep 17; 86(3):285-8. PubMed ID: 10482882.
    Abstract:
    We reported on a 5-year-old Japanese girl with clinical manifestations of Kabuki make-up syndrome (KMS) and van der Woude syndrome (VWS). Since the concurrence of the two syndromes is known in four patients, including ours, it suggests a common cause. Assuming that the association of the two syndromes was caused by a microdeletion involving the putative KMS/VWS genes, we carried out fluorescence in situ hybridization and microsatellite analyses using PAC clones and dinucleotide repeat markers spanning the VWS1 critical region at 1q32-q41. No deletion was detected at the VWS1 critical region.
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