Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
✍ Scribed by Makita, Yoshio; Yamada, Koki; Miyamoto, Akie; Okuno, Akimasa; Niikawa, Norio
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 22 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.