Abstract
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.
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APA
Ramsden, S., Gaunt, L., Seres-Santamaria, A., & Clayton-Smith, J. (1996). A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. In Acta Geneticae Medicae et Gemellologiae (Vol. 45, pp. 255–261). The Mendel Institute. https://doi.org/10.1017/S0001566000001410
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