Angelman's syndrome and 15q11-q13 deletion.
We discuss the results of cytogenetic reinvestigation in 10 patients with Angelman's syndrome reexamined during the last year. A deletion with 15q11-13 could be demonstrated in 6 of them, confirming that with the available cytogenetic techniques a 15q11-13 deletion is visible and detectable in at least half of the patients with this MCA/MR syndrome. On the other hand, the deletion could not be seen in two affected siblings. This indicates that de novo visible 15q11-13 deletions with low recurrence risk and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Kleczowska
A
A
Decock
P
P
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D003582:Cytogenetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007845:Laughter; D013577:Syndrome