University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Sanford Fertility and Reproductive Medicine, Sioux Falls, South Dakota.
S D Med. 2022 Nov;75(11):492-494.
There are two main types of chromosomal translocations known as reciprocal translocations and Robertsonian translocations. These chromosomal rearrangements are described as balanced when there is no significant loss of chromosomal material. Most carriers of balanced translocations are phenotypically normal and may not even know they are carriers of a balanced translocation. A parental balanced translocation may become apparent after having a child with congenital anomalies, during genetic testing, or while trying to conceive due to the increased risk of producing embryos with chromosomal imbalances. In vitro fertilization (IVF) in combination with preimplantation genetic testing (PGT) can potentially decrease the rate of miscarriages and increase the chance of a successful pregnancy. This is a case report of a 29-year-old female with a balanced translocation undergoing IVF with PGTstructural rearrangement (SR) and PGT-aneuploidy (A).
已知两种主要类型的染色体易位，即相互易位和罗伯逊易位。当没有明显的染色体物质丢失时，这些染色体重排被描述为平衡。大多数平衡易位携带者表型正常，甚至可能不知道自己是平衡易位携带者。父母平衡易位可能在生育先天畸形的孩子、进行基因检测或试图怀孕时变得明显，因为产生染色体不平衡胚胎的风险增加。体外受精 (IVF) 结合胚胎植入前遗传学检测 (PGT) 可能降低流产率并增加成功妊娠的机会。这是一例 29 岁女性平衡易位行 PGT 结构重排 (SR) 和 PGT-非整倍体 (A) 的 IVF 病例报告。
