What are Chromosomal Disorders?

Chromosomes are the structures that carry genetic information from one generation to another. Any change in the structure or the number of Chromosomes results in Chromosomal Disorders. There are 23 pairs of Chromosomes, and a problem with even a single Chromosome can lead to Chromosomal Disability.

There are different types of Chromosomal Disabilities prevalent in humans due to an extra, missing or defective chromosome. Here’s the list:

a.       Down Syndrome

b.      FragileX Syndrome

c.       Triple-X Syndrome

d.      Turner Syndrome

Symptoms of Chromosomal Disorders

The symptoms of Chromosomal Disorders vary widely, depending on the exact conditions. Here are some common symptoms that are easily identifiable. Many of these symptoms are visible shortly after birth, while some become apparent later in life.

·       Infertility: Infertility is quite a common symptom in many patients. A lot of infertile couples are diagnosed with some Chromosomal Disorder.

·       Abnormal Head Shape: This is the result of poor development of skull bones due to deformational plagiocephaly, also known as Craniosynostosis

·       Physical & Mental Impairment: Most of the patients suffer from some physical & mental impairment, which is quite apparent

·       Intellectual  Disability: Patients of Chromosomal Disorders struggle with learning new skills, remembering things, decision-making & concentrating on daily chores

·       Distinctive Facial Features: Chromosomal Disorders abnormally alter facial features. Such distinctive facial features are a clear indication of the issue.

·       Absence of Body Hair: Many patients have zero to little hair on their body, indicating Chromosomal Disorder.

·       Other Symptoms: Lower muscle mass, below average height, less birth weight, opening in lips & mouth, and defects in the kidney, liver, heart, stomach, & lungs are some of the other symptoms of Chromosomal Disorders.

If your child or anyone you know is experiencing these symptoms, we highly recommend contacting doctors for further diagnosis.

What Causes Chromosomal Disability

The most common cause of Chromosomal Disability is the error occurring during cell division. Sex cells undergo division based on a process called Meiosis. If this process doesn't happen normally, a child might have a missing or extra chromosome. This causes Chromosomal Disability in the Child.

In some cases, the Chromosome defect can also occur during the division of normal cells when the baby is growing. This results in Chromosomal Disability.

Some chemicals, also known as teratogens, might also be responsible for causing these Chromosomal Defects. These chemicals include tobacco, Alchohol, Street Drugs, Radiation, Viruses & Bacteria and some Toxic Chemicals.

Management & Treatment

There are no treatments or cures for Chromosomal Disorders. But with proper management & care, a patient can live a better life. Some intervention management alternatives include:

a. Counselling: Counselling can be very helpful if a patient is diagnosed with Chromosomal Disorder. Specialised genetic counsellors can help the patient's relatives understand the issues in detail, what intervention alternatives can be helpful & what will impact them. With counselling, the risk of Chromosomal Disorder recurrence can also be reduced.

b. Medication: In some cases, patients experience symptoms like a defect in the heart, lungs, or kidney and some other medical conditions. Medications can help control these symptoms & allow the patient to live a healthy life.

c. Occupational Therapies: Patients with Chromosomal Disorders struggle to manage their daily chores. Occupational Therapies can assist them in learning specific routine activities to live a more independent life.

d. Physical therapy: If the patient has weak muscular strength, physical therapies can help them build strength & improve motor skills.

e. Nutrition Counselling: Many Chromosomal Disorder Patients from Nutrition deficiency. Nutrition counselling can help understand their nutrition needs & how they can be fulfilled.

Chromosomal Disorder patients are prone to multiple health conditions that include delays in physical & mental development. At Apollo Fertility, Guwahati, multiple doctors see such patients & provide the best possible treatment for these conditions.

You can schedule an appointment by reaching out to us right away.

Request an appointment at Apollo Fertility/Cradle in Guwahatti

Call 1860-500-1066 to book an appointment

1. Why Chromosomal Disorder occurs?

Chromosomal Disorder occurs due to the mutation or defect in any of the 23 pairs of Chromosomes.

2. Can Chromosomal Disorders occur in the later stage of life?

The defect can occur in the child before or after birth due to external factors.

3. Is it possible to cure Chromosomal Disorders?

No. As of now, it is not possible to cure Chromosomal Disorders. But with the right care, intervention treatment, various therapy & counselling, the patient can live a better life.

4. Is it possible to prevent the occurrence of Chromosomal Disorders?

No, there is almost nothing you can do to prevent Chromosomal Disorder. But with proper counselling & professional help, the symptoms & relevant health issues can be controlled.

5. Is Down Syndrome a Chromosomal Disorder?

Yes, Down Syndrome is a Chromosomal Disorder that affects the development of the brain & body of the patient.

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