title: Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)).
abstract: 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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: J
authors.initials: J
authors.lastname: Bulcke
authors.forename: P
authors.initials: P
authors.lastname: Verdu
authors.forename: H
authors.initials: H
authors.lastname: Carton
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D003057:Cockayne Syndrome / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male