Genetic Analysis and Prenatal Diagnosis of a Pedigree With Developmental Retardation due to Paternal 8q/18q Translocation

Authorea (Authorea)(2023)

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摘要
Objectives: To define the pathogenic cause of pedigree and provide precise genetic counseling for the pregnant woman, we retrospectively reviewed a pedigree with developmental retardation due to paternal 8q/18q translocation at The Affiliated Taizhou People’s Hospital of Nanjing Medical University. Materials and methods: Karyotype analysis and CMA detection were carried out
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关键词
developmental retardation,pedigree,prenatal diagnosis
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