Maternal uniparental disomy for chromosome 14.

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he...

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Dades bibliogràfiques
Autors principals: Temple, I K, Cockwell, A, Hassold, T, Pettay, D, Jacobs, P
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016977/
https://ncbi.nlm.nih.gov/pubmed/1681108
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