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

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Published in:American journal of medical genetics. Part A 2018-02, Vol.176 (2), p.492-495
Main Authors: 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.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - physiopathology
Adolescent
Aneuploidy
Congenital Abnormalities - genetics
Congenital Abnormalities - physiopathology
Female
Humans
Intellectual disabilities
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Karyotype
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container_title American journal of medical genetics. Part A
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creator van Zutven, Laura J. C. M.
Mancini, Grazia M. S.
Bindels‐de Heus, Karen G. C. B.
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Smit, Marjan
Berna Beverloo, H.
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subjects Abnormalities, Multiple - genetics
Abnormalities, Multiple - physiopathology
Adolescent
Aneuploidy
Congenital Abnormalities - genetics
Congenital Abnormalities - physiopathology
Female
Humans
Intellectual disabilities
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Karyotype
title Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability
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