Delineation of a new chromosome 20q11.2 duplication syndrome including theASXL1gene-Reference-Cited by-同舟云学术

Delineation of a new chromosome 20q11.2 duplication syndrome including theASXL1gene

Published:2013-05-22 Issue:7 Volume:161 Page:1594-1598
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Avila Magali,Kirchhoff Maria¹,Marle Nathalie,Hove Hanna D.¹,Chouchane Mondher²,Thauvin-Robinet Christel,Masurel Alice³,Mosca-Boidron Anne-Laure,Callier Patrick,Mugneret Francine⁴,Kjaergaard Susanne¹,Faivre Laurence

Affiliation:

1. Department of Clinical Genetics; University Hospital of Copenhagen; Rigshospitalet; Denmark

2. Service de Pédiatrie 1; Hôpital d'Enfants, CHU; Dijon; France

3. Centre de Génétique et Centre de Référence Maladies Rares ‘Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est’; Hôpital d'Enfants, CHU; Dijon; France

4. Laboratoire de Cytogénétique; Plateau Technique de Biologie, CHU; Dijon; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35970/fullpdf

Reference12 articles.

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3. Research review new cases of Bohring-Opitz syndrome, update, and critical review of the literature;Bohring;Am J Med Genet Part A,2006

4. Application of comparative genomic hybridization in constitutional chromosome studies;Breen;J Med Genet,1999

5. A novel duplication of the long arm of chromosome 20 in a newborn;Burbridge;J Med Genet,2003

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1. Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4;Frontiers in Psychiatry;2023-11-23

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