title: A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, Hashimoto thyroiditis and hirsutism.
authors.affiliation: Medical Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, Pisa, Italy. a.valetto@ao-pisa.toscana.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.forename: Benedetta
authors.initials: B
authors.lastname: Toschi
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
mesh_terms: D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D050031:Hashimoto Disease / Q000175:diagnosis / Q000235:genetics*; D006628:Hirsutism / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy; D055815:Young Adult