title: Balanced translocation (14;20) in a mentally handicapped child with cystinuria.
abstract: A mentally handicapped 3 year old child with cystinuria is presented. Routine chromosomal analysis showed an apparently balanced de novo translocation in the child with breakpoints 14q22 and 20p13. Family studies suggested that the child is a type I/type II compound heterozygote for cystinuria. This translocation may indicate a possible locus for the gene for cystinuria.
authors.affiliation: South West Thames Regional Genetic Service, St George's Hospital Medical School, London.
authors.forename: M
authors.initials: M
authors.lastname: Sharland
authors.forename: M
authors.initials: M
authors.lastname: Jones
authors.forename: M
authors.initials: M
authors.lastname: Bain
authors.forename: R
authors.initials: R
authors.lastname: Chalmers
authors.forename: J
authors.initials: J
authors.lastname: Hammond
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
mesh_terms: D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002890:Chromosomes, Human, Pair 20; D003545:Cysteine / Q000097:blood / Q000652:urine; D003555:Cystinuria / Q000150:complications / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D003545:Cysteine