An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.
Li
Feng
F
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, 21205, USA.
Batista
Denise A S
DA
Maumenee
Irene
I
Wang
Tao
T
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