Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation  

Oleh:

Ye, Yinghui ; Luo, Yuqin ; Qian, Yuli ; Xu, Chenming ; Jin, Fan

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 01 (Jul. 2011), page e71-e75.
Topik: Cri du chat syndrome; preimplantation genetic diagnosis; fluorescence in situ hybridization; reciprocal translocation

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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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