title: Unique mosaic X/Y translocation/insertion in infant 45,X male.
abstract: We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.
authors.affiliation: Research Centre for Medical Genetics of Russian Academy of Medical Sciences, Russian Federation, Moscow, Russia. chernykh@med-gen.ru
authors.forename: V B
authors.initials: VB
authors.lastname: Chernykh
authors.forename: S V
authors.initials: SV
authors.lastname: Vyatkina
authors.forename: V G
authors.initials: VG
authors.lastname: Antonenko
authors.forename: N V
authors.initials: NV
authors.lastname: Shilova
authors.forename: T V
authors.initials: TV
authors.lastname: Zolotukhina
authors.forename: L F
authors.initials: LF
authors.lastname: Kurilo
authors.forename: A L
authors.initials: AL
authors.lastname: Chukhrova
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000235:genetics; D007057:Ichthyosis / Q000150:complications / Q000235:genetics; D007223:Infant; D008297:Male; D009030:Mosaicism; D014178:Translocation, Genetic