Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation

Abstract

Key Clinical MessageBalanced 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.