title: Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.
authors.affiliation: Unitat de Biologia Cel lular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
authors.forename: I
authors.initials: I
authors.lastname: Madrigal
authors.forename: M R
authors.initials: MR
authors.lastname: Martorell
authors.forename: A
authors.initials: A
authors.lastname: González-Meneses
authors.forename: G
authors.initials: G
authors.lastname: Rodríguez-Criado
authors.forename: M
authors.initials: M
authors.lastname: Milà
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: C
authors.initials: C
authors.lastname: Fuster
mesh_terms: D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D002988:Cloaca / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012007:Rectum / Q000002:abnormalities / Q000473:pathology; D012729:Sex Chromosome Aberrations