What are the common manifestations of chromosomal abnormalities?

Patient's question:

Left and right fetuses died. Onset time: 2008. Test results:

Doctor's answer:

Firstly, there are abnormalities in the number of chromosomes (normal chromosomes are 46, with males being 46,XY and females being 46,XX). Among these, there are abnormalities or duplications of triploid and tetraploid disorders with 45 or 47 chromosomes. There are also structural abnormalities caused by viral-induced chromosomal abnormalities, deletions, and translocations. Chromosomal numerical or minor structural abnormalities can lead to the addition or deletion of many genes, resulting in various deformities. Chromosomal abnormalities are the fundamental causes of congenital multiple deformities, unexplained intellectual disability, delayed birth and development, and natural fetal miscarriage. The chromosomal abnormality rate in couples with recurrent miscarriages is approximately 3.2% to 4.9%, which is significantly higher than the normal population (0.5%). The main manifestations are early embryonic arrest and repeated miscarriages. About 60% of miscarried embryos within the first 12 weeks have chromosomal abnormalities, and the chromosomal abnormality rate drops significantly to about 7% after 24 weeks of gestation, indicating that natural miscarriages caused by chromosomal abnormalities are a form of natural selection in human evolution. With the development of gene probes and recombinant technologies, the relationship between chromosomal abnormalities and infertility will be further clarified. The causes of infertility due to chromosomal abnormalities include the inheritance and recombination of abnormal chromosomes. Various reasons leading to the non-separation of oocytes or spermatocytes, double fertilization, fertilization by diploid sperm cells, and other factors. Chromosomal deletions, breaks, rings, or translocations in fertilized eggs or embryos caused by radiation, drugs, pathogens, viruses, etc.

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