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. 1992 Feb;88(4):376-8.
doi: 10.1007/BF00215668.

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome

J C Smith  1 , T Webb, M E Pembrey, M Nichols, S Malcolm
Affiliations

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome

J C Smith et al. Hum Genet. 1992 Feb.

Abstract

About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parental origin was determined using cytogenetic markers in 13 of the cases, in nine by using the pattern of inheritance of restriction fragment length polymorphisms, and in three using both techniques.

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References

    1. Am J Med Genet. 1990 Mar;35(3):333-49 - PubMed
    1. Lancet. 1983 Jun 4;1(8336):1285-6 - PubMed
    1. Hum Genet. 1976 Oct 28;34(2):199-206 - PubMed
    1. Hum Genet. 1988 Dec;80(4):322-8 - PubMed
    1. J Med Genet. 1989 Feb;26(2):73-7 - PubMed

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