Fragile X syndrome and nephrogenic diabetes insipidus.
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.
Suthers
G K
GK
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales.
Turner
G
G
Mulley
J C
JC
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
D005819:Genetic Markers