Finding the Truth About Chromosomal Abnormalities

When it comes to chromosomal abnormalities you should know that they are more common than you may have thought. About 1 in every 150 cases a baby is affected by them. These are caused by errors of the structure or the number of the chromosomes and they could affect one or both genders.

Information about abnormalities of the chromosomes

The babies with chromosomal abnormalities could have physical or mental birth defects while other abnormalities could lead to stillbirth or miscarriage. In case the parents understand what these defects mean, it will become easier for them to handle the effects.

Chromosomal Abnormalities

Common abnormalities

People should know about the abnormalities of the chromosomes that the first 22 pairs of chromosomes are known as autosomes. The abnormalities affect these autosomes.

Down syndrome

This syndrome is one of the most common chromosomal abnormalities and it affects 0.15% of the babies. The affected children have to deal with varying degrees of special facial features, intellectual disabilities, heart defects and other related problems.

It is true that once the outlook for the children with such abnormalities of the chromosomes has been quite negative, nowadays, due to the development of technology the outlook is a lot brighter. If the baby receives special education, he or she could learn to write and read and could participate in activities for children.

Trisomies 18 and 13

The sad truth about this one of the chromosomal abnormalities is that it is more serious than Down syndrome. One in every 16,000 has trisomy 13 and one baby in every 5,000 babies has trisomy 18. The affected babies usually are affected by mental retardation and they also have physical abnormalities.

Some people say that it is cruel, but the babies with abnormalities of the chromosomes of this kind die before their first birthday.

Sex chromosomes

It is possible for the sex chromosomes to be affected, and in this case the baby could be affected by infertility, learning or behavioral problems and growth abnormalities. There are some common sex chromosome abnormalities as well.

Turner syndrome

This one of the chromosomal abnormalities affects one girl in every 2,500 births and it means that the second X chromosome is missing entirely. In the majority of the cases they are affected by infertility and they don’t have to go through changes in puberty unless they receive hormonal therapy.

Usually the girls with abnormalities of the chromosomes of this kind are quite short, but they could get taller if they receive growth hormone treatment. Some other health issues of children could include kidney and heart defects. Although girls have normal intelligence, they may have learning problems.

Triple X

It is interesting to know regarding chromosomal abnormalities that 0.1% of women have an extra X chromosome. These girls are taller than the rest and they have no problems with fertility, no physical defects and they go through puberty normally.

Just as in the previous case of abnormalities of the chromosomes, the girls have normal intelligence, but they could have learning difficulties. Since the girls are healthy and apparently have no problems, not even they or their parents could know that they have an extra X chromosome. The parents could know only in case the little one has been tested as part of the prenatal testing.

Klinefelter syndrome

This syndrome regarding chromosomal abnormalities affects boys and it means that boys have more X chromosomes besides their Y chromosome. Just as in case of girls, they have regular intelligence, but they could be affected by learning problems. Also they have lower levels of testosterone and in adulthood they are affected by infertility.


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