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.
Keywords: 18q deletion syndrome; 8q duplication; 8q/18q translocation; balanced translocation; enrichment analysis; prenatal diagnosis.
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.