A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation

8Citations
Citations of this article
7Readers
Mendeley users who have this article in their library.

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.

Cite

CITATION STYLE

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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free