Angelman's syndrome and 15q11-q13 deletion |
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Authors: | J P Fryns A Kleczowska P Decock H van den Berghe |
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Affiliation: | Centre for Human Genetics, University of Leuven, Belgium. |
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Abstract: | 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%. |
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