Question

What are the manifestations of chromosomal abnormalities?

Answer

Chromosomal abnormalities may manifest as numerical or structural anomalies. Numerical anomalies can include the absence or presence of an extra chromosome, while structural anomalies involve deletions, translocations, or rearrangements of chromosomes. These anomalies can lead to changes in multiple genes and various malformations. In early pregnancy, chromosomal abnormalities are one of the main causes of embryonic arrest and recurrent miscarriage. With the development of gene probes and recombination technologies, we have a deeper understanding of the relationship between chromosomal abnormalities and infertility. Causes of infertility due to chromosomal abnormalities include genetic and recombination factors, non-dividing oocytes or spermatocytes, double fertilization, as well as the effects of radiation, drugs, pathogens, and viruses on the fertilized egg and embryo.