title: Hypomelanosis of Ito: involvement of chromosome aberrations in this syndrome.
abstract: The authors report on cytogenetic results of six patients with hypomelanosis of Ito. Karyotypes from peripheral lymphocytes prometaphases and skin fibroblasts metaphases were normal. A review of the literature revealed no specific chromosomal abnormality but a close association between mosaicism and HI syndrome. The X-chromosome was involved in 53% of the abnormal cases.
authors.affiliation: Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Lenzini
authors.forename: P
authors.initials: P
authors.lastname: Bertoli
authors.forename: L
authors.initials: L
authors.lastname: Artifoni
authors.forename: P A
authors.initials: PA
authors.lastname: Battistella
authors.forename: C
authors.initials: C
authors.lastname: Baccichetti
authors.forename: A
authors.initials: A
authors.lastname: Peserico
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics; D010641:Phenotype; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D014960:X Chromosome