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

✍ Scribed by J. Clayton Smith; T. Webb; M. E. Pembrey; M. Nichols; S. Malcolm

Publisher: Springer
Year: 1992
Tongue: English
Weight: 334 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00215668

No coin nor oath required. For personal study only.

✦ Synopsis

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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