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

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

Reference12 articles.

1. Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review;Blanc;Am J Med Genet Part A,2008

2. Severe end of Opitztrigonocephaly (C) syndrome or new syndrome;Bohring;Am J Med Genet,1999

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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