Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)).
We present the history and data on a 24-year-old man with clinical and neurological symptoms similar to the findings in patients with late-onset Cockayne syndrome. Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Bulcke
J
J
Verdu
P
P
Carton
H
H
Kleczkowska
A
A
Van den Berghe
H
H
D000328:Adult; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D003057:Cockayne Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male