Deletion of 15q12 in Angelman syndrome: report of 3 new cases.
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.
Tonk
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V
Center for Human Genetics, Boston University, School of Medicine, MA.
Wyandt
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HE
Michand
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Milunsky
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A
D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D008297:Male