Chromosomal abnormalities can cause structural or numerical anomalies, resulting in birth defects or miscarriage. Errors during cell duplication or fertilization can cause these abnormalities, which increase with age. Prenatal testing and genetic counseling are recommended.
Chromosomal abnormalities are defects in the structure or number of chromosomes. Depending on the nature of the abnormality, such abnormalities may be incompatible with life, in which case the baby will be miscarried early in the pregnancy, or they may be barely noticeable, sometimes not appearing until someone is tested. routine doctors for something adult. It is estimated that about one in 150 children has some form of chromosomal abnormality.
There are two main types of chromosomal abnormalities. The former are structural abnormalities, meaning that the structure of individual chromosomes is damaged or confused in some way. The others are numerical anomalies. A normal baby has 46 chromosomes, created with two sets of 23 chromosomes inherited from the parents, and an unusual number of chromosomes can lead to serious birth defects. The medical term for a numerical abnormality is “aneuploidy.”
Many chromosomal abnormalities occur during fetal development, as something goes wrong when cells duplicate. In the early stages of fetal development, cell duplication proceeds at an incredibly rapid rate, which means there is plenty of opportunity for replication errors. When chromosomal abnormalities develop after fertilization in this way, they usually result in mosaicism, in which some cells have the abnormality and some don’t.
A chromosomal abnormality can occur even before fertilization. If an error occurs during egg and sperm cell replication, this can result in a chromosomal abnormality if the cell becomes part of a zygote, a fertilized egg that has the potential to develop into a fetus. As the cells in the zygote replicate, the chromosomal abnormality replicates along with them.
Errors in structure include: deletion, duplication, inversion, insertion and translocation. All of these errors result in some form of chromosome shuffling. Either a section of a chromosome is missing, duplicated, flipped, added where it doesn’t belong, or swapped with another section of the chromosome. Depending on the section and chromosome involved, these abnormalities can lead to serious birth defects or go unnoticed. Aneuploidy can take the form of trisomy, in which one pair of chromosomes has an extra chromosome attached, or monosomy, in which half of a chromosome pair is missing.
As a general rule, chromosomal abnormalities are not inherited because they result from errors during cell duplication. The risk of chromosomal abnormalities increases with age, which is why extensive prenatal testing is recommended for older mothers. However, it also happens in younger women and many miscarriages are the result of chromosomal abnormalities. In the event that a child or fetus is diagnosed with chromosomal abnormalities, several options are available and the situation can be discussed with a genetic counselor.
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