title: An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, 21205, USA.
authors.forename: Feng
authors.initials: F
authors.lastname: Li
authors.forename: Denise A S
authors.initials: DA
authors.lastname: Batista
authors.forename: Irene
authors.initials: I
authors.lastname: Maumenee
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D014178:Translocation, Genetic