A t(5;16)(p15.32;q23.3) generating 16q23.3 → qter duplication and 5p15.32 → pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33400/fullpdf
Reference17 articles.
1. Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers;Anton;Hum Reprod,2007
2. Terminal deletion of the short arm of chromosome 5;Baccichetti;Clin Genet,1988
3. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies;Baker;Am J Med Genet,2002
4. Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature;Brisset;Am J Med Genet,2002
5. Partial trisomy for long arm of chromosome 16;Buckton;J Med Genet,1981
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