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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

29 Sept 2021

Abstract excerpt

AIMS: There is little knowledge about partial trisomy 4q and the genotype-phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the genotype and the phenotype. METHODS: Two pedigrees with distal 4q duplication were enrolled in this study. Karyotype analysis and single-nucleotide polymorphism (SNP)...

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PMID: 34587985
DOI: 10.1186/s13039-021-00568-9

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