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

Am J Med Genet A. 2018 Feb;176(2):492-495. doi: 10.1002/ajmg.a.38553. Epub 2017 Dec 11.

Authors

Laura J C M van Zutven¹, Grazia M S Mancini¹, Karen G C B Bindels-de Heus², Erica L T van den Akker², Lorette O M Hulsman¹, Marjan Smit¹, H Berna Beverloo¹

Affiliations

¹ Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
² Department of Pediatrics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.

PMID: 29226581
DOI: 10.1002/ajmg.a.38553

No abstract available

Publication types

Letter

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Adolescent
Aneuploidy
Congenital Abnormalities / genetics*
Congenital Abnormalities / physiopathology
Female
Humans
Intellectual Disability / genetics*
Intellectual Disability / physiopathology
Karyotype