Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

Author:

Tabet Anne-Claude,Aboura Azzedine,Gérard Marion,Pilorge Marion,Dupont Céline,Gadisseux Jean-François,Hervy Nadège,Pipiras Eva,Delahaye Andrée,Kanafani Samia,Verloes Alain,Benzacken Brigitte,Betancur Catalina

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome;Brøndum-Nielsen;Clin Genet,1993

2. A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy;Burton;Proc Natl Acad Sci USA,1999

3. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation;Cappon;Med Sci Monit,2000

4. Trisomy 6q syndrome: A case with a de novo 6q23 tandem duplication;Causio;Genet Couns,2001

5. Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients;Dallapiccola;Acta Genet Med Gemellol (Roma),1978

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