title: X-linked mental retardation associated with psoriasis: a new syndrome?
abstract: Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high-resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.
authors.affiliation: Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: A
authors.initials: A
authors.lastname: Svejgaard
authors.forename: G
authors.initials: G
authors.lastname: Lykkesfeldt
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011565:Psoriasis / Q000150:complications / Q000235:genetics*; D012640:Seizures / Q000150:complications / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome