Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation

ObjectiveTo report the first case of cri du chat syndrome after preimplantation genetic diagnosis (PGD) for reciprocal translocation.DesignCase report.SettingIn vitro fertilization center in a university affiliated hospital.Patient(s)A woman carrying a t(11;22)(q23;q11.2) translocation.Intervention(s)Preimplantation genetic diagnosis was performed, and the woman became pregnant.Main Outcome Measure(s)Successful PGD for reciprocal translocation and diagnosis of Cri du chat syndrome for the baby.Result(s)A male baby was born at 36 weeks’ gestation. However, the baby presented with a high-pitched, cat-like cry. Cytogenetic study revealed a rare case of cri du chat syndrome associated with t(11;22)(q23;q11.2) translocation.Conclusion(s)Chromosomal abnormalities, including the rare cru du chat syndrome, may occur after fluorescent in situ hybridization–based preimplantation genetic diagnosis.