Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

Am J Med Genet. 1999 Sep 17;86(3):285-8. doi: 10.1002/(sici)1096-8628(19990917)86:3<285::aid-ajmg18>3.0.co;2-e.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • DNA Primers / genetics
  • Facies
  • Female
  • Growth Disorders / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Lip / abnormalities
  • Microsatellite Repeats
  • Physical Chromosome Mapping
  • Syndrome


  • DNA Primers