title: Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.
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.
authors.affiliation: Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan. makita5p@asahikawa-med.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Makita
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: A
authors.initials: A
authors.lastname: Miyamoto
authors.forename: A
authors.initials: A
authors.lastname: Okuno
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008046:Lip / Q000002:abnormalities; D018895:Microsatellite Repeats; D020161:Physical Chromosome Mapping; D013577:Syndrome
chemical_list: D017931:DNA Primers