MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference23 articles.
1. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q;Chen;Am. J. Med. Genet. A,2006
2. Development and validation of a CGH microarray for clinical cytogenetic diagnosis;Cheung;Genet. Med.,2005
3. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski−/− mice;Colmenares;Nat. Genet.,2002
4. Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection);Gerdes;Electrophoresis,2005
5. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly;Greenberg;Am. J. Med. Genet.,1988
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