title: A new syndrome with mental retardation, short stature and an Xq duplication.
abstract: We describe a new X-linked syndrome of marked short stature, severe intellectual handicap and an unusual facial appearance. High resolution prometaphase banding showed affected males to have an X chromosome tandem duplication; their karyotypes were designated 46,dup(X) (q13.1-q21.1)Y. In carrier females the abnormal X chromosome was late replicating. To verify the duplication, gene dosage studies were performed using an enzyme assay and DNA techniques. Prenatal diagnosis is available for carrier females using chromosome analysis of amniocytes or chorionic villi.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Sydney, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Thode
authors.forename: M W
authors.initials: MW
authors.lastname: Partington
authors.forename: M Y
authors.initials: MY
authors.lastname: Yip
authors.forename: C
authors.initials: C
authors.lastname: Chapman
authors.forename: V F
authors.initials: VF
authors.lastname: Richardson
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome