title: Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
authors.affiliation: Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and S. Maria della Misericordia Hospital, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Gabriela
authors.initials: G
authors.lastname: Stangoni
authors.forename: Carmela
authors.initials: C
authors.lastname: Ardisia
authors.forename: Daniela
authors.initials: D
authors.lastname: Rogaia
authors.forename: Amedea
authors.initials: A
authors.lastname: Mencarelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
mesh_terms: D000853:Anophthalmos / Q000235:genetics*; D002420:Cauda Equina / Q000002:abnormalities; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004480:Ectromelia / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*