title: Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
abstract: Kabuki syndrome (KS) comprises multiple congenital anomalies and distinctive facial appearance. Although a number of chromosome abnormalities have been described in patients with KS-like phenotypes, no consensus has been reached regarding the genetic basis underlying the classic Kabuki phenotype. A recent study reported on 8p22-8p23.1 duplication in patients diagnosed with KS; however, a number of other studies have not found this duplication in patients with classic KS. We report on a girl with triplication of 8p22-8p23 who has mental retardation and some features suggestive of KS, including growth retardation, left-sided obstructive heart lesion, long-appearing palpebral fissures, hypertelorism, sparse lateral eyebrows, prominent ears, and persistent fetal fingertip pads. She does not have the typical facial gestalt of KS, nor does she have other more specific findings of KS. We propose that abnormal copy number of genes in the 8p22-8p23 region results in a syndrome of multiple congenital anomalies with many features that overlap with classic KS. However, data from this patient and others with similar duplications in the literature suggest that duplication or triplication of 8p22-8p23 represents a recognizable pattern of malformation distinct from classic KS. The exact genetic abnormality underlying KS currently remains unknown.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.
authors.forename: Joseph T C
authors.initials: JT
authors.lastname: Shieh
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Athena M
authors.initials: AM
authors.lastname: Cherry
authors.forename: Zhezhong
authors.initials: Z
authors.lastname: Shen
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D013577:Syndrome