Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation
Clinical case reports（2023）
Abstract
Balanced reciprocal chromosomal translocation carriers will have greater risk to experience recurrent miscarriages, embryonic death, and infertility. We show the pedigree carrying a paternal karyotype which was reported first. This research helps to better understand the clinical manifestations and prognosis of patients with this rare chromosomal abnormality. Pedigree of the family.image
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Key words
18q deletion syndrome,8q duplication,8q/18q translocation,balanced translocation,enrichment analysis,prenatal diagnosis
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