De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome-Reference-Cited by-同舟云学术

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

Published:2012-08-17 Issue:10 Volume:158A Page:2557-2563
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Burrage Lindsay C.,Person Richard E.,Flores Angela,Villanos Maria Theresa M.,Bi Weimin,Wiszniewska Joanna,Bacino Carlos A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35549/fullpdf

Reference22 articles.

1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999

2. Detection of clinically relevant exonic copy-number changes by array CGH;Boone;Hum Mutat,2010

3. Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations;Browne;Am J Hum Genet,1997

4. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis;Buiting;Am J Hum Genet,1998

5. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13);Christian;Hum Mol Genet,1999

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