title: Fragile X syndrome and nephrogenic diabetes insipidus.
abstract: We describe a man with the fra(X) syndrome and nephrogenic diabetes insipidus. The disease loci for both conditions are in the region Xq27.3-q28. This is the first report of the fra(X) syndrome associated with another X-linked disorder. Analysis of DNA markers suggested that the association in this man was coincidental.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales.
authors.forename: G K
authors.initials: GK
authors.lastname: Suthers
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
mesh_terms: D003919:Diabetes Insipidus / Q000150:complications* / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000150:complications*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers