A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33266/fullpdf
Reference19 articles.
1. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting;Abuelo;Am J Med Genet,2000
2. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers;Arens;Am J Med Genet Part A,2004
3. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21;Blouin;Hum Genet,1991
4. Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3);Bocian;J Appl Genet,2005
5. Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies;Breslau-Siderius;Hum Genet,1993
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1. Balanced complex chromosome rearrangements: Reproductive aspects. A review;American Journal of Medical Genetics Part A;2012-03-01
2. FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish;Molecular Syndromology;2010
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