title: Diploid/triploid mosaicism: further delineation of the phenotype.
abstract: Here we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have not received sufficient attention in previous reports: pigmentary dysplasia and truncal obesity.
authors.affiliation: Department of Pediatrics, School of Medicine, Federal University of Rio de Janeiro, Brazil.
authors.forename: G
authors.initials: G
authors.lastname: Carakushansky
authors.forename: E
authors.initials: E
authors.lastname: Teich
authors.forename: M G
authors.initials: MG
authors.lastname: Ribeiro
authors.forename: D D
authors.initials: DD
authors.lastname: Horowitz
authors.forename: S
authors.initials: S
authors.lastname: Pellegrini
mesh_terms: D002675:Child, Preschool; D003582:Cytogenetics; D004171:Diploidy; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000473:pathology; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology*; D011123:Polyploidy