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Deletion of 15q12 in Angelman syndrome: report of 3 new cases
Author(s) -
Tonk Vijay,
Wyandt Herman E.,
Michand Lucille,
Milunsky Aubrey
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03246.x
Subject(s) - angelman syndrome , proband , genetics , chromosome , chromosome 15 , biology , medicine , pediatrics , mutation , gene
Deletion of 15q12 has been reported in patients with Angelman syndrome (AS). We report chromosome studies showing del(15q12) in three new cases, diagnosed as having AS. We were also able to determine, through heteromorphism studies, that the origin of the deleted chromosome in all three probands is maternal. This is a consistent finding in previously reported cases of AS.