染色体易位
非整倍体
罗伯逊易位
生物
植入前遗传学诊断
体外受精
基因检测
遗传学
染色体重排
怀孕
核型
染色体
基因
作者
Morgan Schriever,Jason Flanagan,Tiffany Von Wald
出处
期刊:PubMed
日期:2022-11-01
卷期号:75 (11): 492-494
摘要
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).
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