Chromosomal aberrations are departures from the normal set of chromosomes either from an individual or from a species.
They can also be referred to as changes in the number of sets of chromosomes or changes in the number of individual chromosomes or changes in appearance of individual chromosome.
They are caused by errors in the number of chromosomes or errors in the structure of chromosomes during cell division. (www.biology reference.com).
You may be wondering what a chromosome is? Well, chromosome is a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes (https://ift.tt/2cqX2S6).
A normal human cell normally contains 23 pairs of chromosomes for a total of 46. However, 22 of this pairs look the same in both male and females (https://ghr.nlm.nih.gov). Females have two copies of X chromosomal (X, X) while males have one X and one Y chromosome.
Read Also: Did you know that HIV positive couples can give birth to HIV negative child?
Diseases caused by chromosomal aberration/disorder
There are certain diseases caused by these chromosome disorder and they are;
-
Turner syndrome; this is a condition in females in which an X chromosome is missing in the normal XX chromosome. Individuals living with this disorder have a webbed neck, broad chest and widely spaced nipples. They are mostly shorter than average and no development of secondary sexual characteristics.
-
Down syndrome; there are more than 100 thousand reported cases of this syndrome per year in Nigeria. This condition can also be referred to as Mongolism and people with this, are often referred to as Mongolian idiot.
This occurs, when there is an extra chromosome in the normal chromosomal settings of normal human beings making it a total 47 instead of the normal 46. Individuals with this disorder have a face with moon shaped head, short neck, short height, short fingers, small ears which may be folded at the top, a tongue that sticks out of the mouth, they are also sometimes, mutually retarded with low IQ level.
-
Klinefelter syndrome; this condition, has fewer than 100 thousand cases per year in Nigeria. This happens when there is an extra X chromosome in the normal XY chromosome in a male. However, this condition happens in males. Males living with this are usually sterile with small testicles, has a high pitched feminine voice, breast enlargement, flaccid muscles, broader hips than normal males and less facial and body hair compared with other males.
Who is at risk of giving birth to a person with the chromosomal disorder ?
All age group capable of reproduction are at risk of this, but however, research has shown that the risk of chromosomal abnormality increase with maternal age. That is, the chances of having a child affected by Down syndrome increases from about 1 in 1,250 for a woman who conceives at age 25 and 1, in100 for a woman who conceives at age 40.
Read Also: Mental health:Depression in children and adolescents?
Does chromosomal disorder have a cure?
No cures exist for chromosomal disorders. But treatments are available to correct some of the conditions that result from them. i.e. about half of babies born with Down syndrome have a heart defect and about 10% are born with intestinal malformations that require surgery. All these can be treated
However, the chromosomal disorder can be discovered before the birth of babies ! How?
It can be discovered through a process, known as Amniocentesis. Amniocentesis is a process in which amniotic fluid is sampled using a hollow needle inserted into the uterus to screen for abnormalities in the developing fetus (https://en.m.wikipedia.org).
Finally, these disorders are not inherited, as they are just genetic errors that occur during the reproductive process. These disorders are caused by mutations that affect a particular/specific chromosome. But it is, however, unclear, what causes these mutations to occur.
Written by Funmi Akintade.
I am Funmi Akintade, a freelance writer and a blogger. You can reach me at funmiakins40@gmail.com , instagram at fumeeakins, facebook at funmiakintade.