Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations.
A young, mentally retarded man with seizures was discovered to have a ring chromosome 17. He had no major anomalies. The phenotype associated with r(17) probably is variable. The patient's deletion and genotype allowed us to reduce further the chromosome location of the acid alpha-glucosidase gene.
D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D005260:Female; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D000520:alpha-Glucosidases / Q000235:genetics
D000520:alpha-Glucosidases