Yinghui Ye1, Yuqin Luo, Yuli Qian, Chenming Xu, Fan Jin. 1. Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Abstract
OBJECTIVE: To report the first case of cri du chat syndrome after preimplantation genetic diagnosis (PGD) for reciprocal translocation. DESIGN: Case report. SETTING: In 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.
OBJECTIVE: To report the first case of cri du chat syndrome after preimplantation genetic diagnosis (PGD) for reciprocal translocation. DESIGN: Case report. SETTING: In 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.