Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.

van Zutven, Laura J C M; Mancini, Grazia M S; Bindels-de Heus, Karen G C B; van den Akker, Erica L T; Hulsman, Lorette O M; Smit, Marjan; Berna Beverloo, H

van Zutven, Laura J C M; Mancini, Grazia M S; Bindels-de Heus, Karen G C B; van den Akker, Erica L T; Hulsman, Lorette O M; Smit, Marjan; Berna Beverloo, H.

Afiliación

van Zutven LJCM; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Bindels-de Heus KGCB; Department of Pediatrics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
van den Akker ELT; Department of Pediatrics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Hulsman LOM; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Smit M; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Berna Beverloo H; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.

Am J Med Genet A ; 176(2): 492-495, 2018 02.

Article en En | MEDLINE | ID: mdl-29226581

Asunto(s)

Anomalías Múltiples/genética; Anomalías Congénitas/genética; Discapacidad Intelectual/genética; Anomalías Múltiples/fisiopatología; Adolescente; Aneuploidia; Anomalías Congénitas/fisiopatología; Femenino; Humanos; Discapacidad Intelectual/fisiopatología; Cariotipo

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Anomalías Múltiples / Discapacidad Intelectual Límite: Adolescent / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos

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