In this article, we are going to discuss everything about chromosomal disorders. We have mentioned how these disorders appear and what are the best ways to deal with them.
Introduction
Chromosomes are the basic cellular components that are present in the nucleus of the cell that have a set of genes arranged over it. These genes are the ones that are responsible for the expression of different proteins in the body, which will make up the entire body. There can be changes in the number and the structure of these chromosomes due to various defects. This might eventually lead to chromosomal disorders.
There are normally 22 pairs of autosomes and one pair of sex chromosomes that get transmitted from the parent's body to the child's body. There can be chances that one of the chromosomes gets doubled up, causing a trisomy, or even one of the chromosomes gets missing, which causes monosomy.
Types of chromosomal disorders
There can be numerous types of chromosomal disorders, but some of the most frequently occurring are-
- Down syndrome (Trisomy 21).- The chromosome number 21 gets doubled in this syndrome.
- Fragile X syndrome.- This is a rare, occurring syndrome on the sex chromosome x.
- Klinefelter syndrome- A chromosomal disorder in which males get an extra X chromosome.
- Triple-X syndrome.
- Turner syndrome.
- Trisomy 18.
- Trisomy 13.
Symptoms of Chromosomal Disorders
The symptoms of different chromosomal disorders can vary accordingly.
- Down syndrome-
There are numerous symptoms of Down syndrome that might include an overall development delay.
People have also noticed developmental issues regarding speech and thinking.
Symptoms such as brachycephaly bent little finger, displacement of the tongue and more are seen.
- Fragile X syndrome
People facing Fragile X syndrome can include numerous symptoms such as delay in talking, lots of anxiety and even seizures.
Hyperactivity and aggressive behaviour are also very common.
Persistent repetition of words along with a long and thin face is usually seen.
- Klinefelter syndrome
Due to the extra X chromosome in the body, the Klinefelter syndrome can lead to changes in the voice tone.
The muscular mass that a normal male has also gets reduced.
Most of the males have low sperm counts and are infertile.
- Triple-X syndrome
There are numerous disturbances in the entire development process of a child suffering from the syndrome.
Seizures along with nephrotic problems are some of the very common symptoms.
Behavioural changes and attention deficit is also seen. Hyperactivity of the child is seen very frequently.
Diagnosis of chromosomal disorders
With the advancements in technology these days, detecting chromosomal disorders has become easy. Chromosomal disorders are basically seen in the clinical features in the initial stages by doctors.
Here are some of the tests for the diagnosis of chromosomal disorders
- Early risk assessment
- Sequential screening
- Quadruple screen
- Cell-free DNA analysis (cfDNA)
- Full fetal survey
Treatment of chromosomal disorders
Treating the specific symptoms of chromosomal disorders is not a permanent solution. There can be various options these days, such as genetic therapy, genetic counselling, physiotherapy, and even help with different medicines that can improve the condition.
With proper genetic counselling, one can get to know about the stage of the chromosomal disorder. It can also help in providing a good diagnosis and getting prepared for upcoming problems due to chromosomal changes. Book a consultancy appointment at Apollo Fertility by calling 1860-500-4424.
Hormone replacement therapy, along with the help of medicines these chromosomal disorders can be taken care of these days. With more and more coming to the field, the treatment of chromosomal disorders has become better, and there are some cases in which the diseases could have been eradicated completely.
The causes of chromosomal disorders are not well defined. There can be numerous factors that might hamper the normal chromosomal setup of an individual. It might be genetic due to exposure to some harmful mutations and more.
Chromosomal order sometimes can be failed, but on the other hand, with proper management, these disorders can be very easily dealt with.
If you are pregnant with a chromosomal disorder, then there are chances that the disease can be passed to your offspring. To avoid such situations, one must get the opinions of experts who can predict the events of the siblings having the chromosomal.
People who are suffering from chromosomal disorders can go for gene replacement therapy. But on the other hand, there might be many limitations and certain criteria over which this therapy can be done. With successful gene replacement therapy, these chromosomal disorders can be completely eradicated. Development in the field of gene replacement has become easier and more efficient.
