Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation

Yinghui Ye, Yuqin Luo, Yuli Qian, Chenming Xu, Fan Jin
Fertility and Sterility 2011, 96 (1): e71-5

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.

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