Clinical phenotype of the recurrent 1q21.1 copy-number variant | Zendy

Raphael Bernier | Zendy; Kyle J. Steinman | Zendy; Beau Reilly | Zendy; Arianne S. Wallace | Zendy; Elliott H. Sherr | Zendy; Nicholas J. Pojman | Zendy; Heather C. Mefford | Zendy; Jennifer Gerdts | Zendy; Rachel K. Earl | Zendy; Ellen Hanson | Zendy; Robin P. GoinKochel | Zendy; Leandra N. Berry | Zendy; Stephen M. Kanne | Zendy; LeeAnne Green Snyder | Zendy; Sarah Spence | Zendy; Melissa B. Ramocki | Zendy; David W. Evans | Zendy; John E. Spiro | Zendy; Alastair J. Martin | Zendy; David H. Ledbetter | Zendy; Wendy K. Chung | Zendy

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Clinical phenotype of the recurrent 1q21.1 copy-number variant

Author(s) -

Raphael Bernier,

Kyle J. Steinman,

Beau Reilly,

Arianne S. Wallace,

Elliott H. Sherr,

Nicholas J. Pojman,

Heather C. Mefford,

Jennifer Gerdts,

Rachel K. Earl,

Ellen Hanson,

Robin P. GoinKochel,

Leandra N. Berry,

Stephen M. Kanne,

LeeAnne Green Snyder,

Sarah Spence,

Melissa B. Ramocki,

David W. Evans,

John E. Spiro,

Alastair J. Martin,

David H. Ledbetter,

Wendy K. Chung

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.78

Subject(s) - copy number variation , hypotonia , gene duplication , proband , macrocephaly , speech delay , autism spectrum disorder , intellectual disability , autism , medicine , microcephaly , genetics , psychiatry , pediatrics , biology , gene , mutation , genome

To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains.

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