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A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation
1996
Acta geneticae medicae et gemellologiae twin research
Preserved Fulltext
A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.
doi:10.1017/s0001566000001410
pmid:8872042
fatcat:qbosvop4jzcv3owvlurcrnu644