title: Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).
abstract: A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype.
authors.affiliation: Jerome Lejeune Medical Center, Paris, France. cmjl@cmjl.org
authors.forename: Clotilde
authors.initials: C
authors.lastname: Mircher
authors.forename: Marie-Odile
authors.initials: MO
authors.lastname: Rethore
authors.forename: James
authors.initials: J
authors.lastname: Lespinasse
authors.forename: Sandra
authors.initials: S
authors.lastname: Fert-Ferrer
authors.forename: Claes
authors.initials: C
authors.lastname: Lundsteen
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchoff
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype