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[Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2014

Chen Chen, Peng Ying, Xia Yan, Li Haoxian, Zhu Huimin, Pan Qian, Yin Fei, Wu Lingqian

Abstract excerpt

OBJECTIVE: To investigate the genotype-phenotype correlation in patients with Angelman syndrome/Prader-Willi syndrome (AS/PWS) and assess the application value of high-resolution single nucleotide polymorphism microarrays (SNP array) for such diseases. METHODS: Twelve AS/PWS patients were diagnosed through SNP array, fluorescence in situ hybridization (FISH) and karyotype analysis. Clinical characteristics were...

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Angelman Syndrome
Child, Preschool
Chromosome Deletion
Genotype
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Prader-Willi Syndrome

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PMID: 25449072
DOI: 10.3760/cma.j.issn.1003-9406.2014.06.006

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