Chromosomal Disorders

Chromosomal Disorders

Chromosomal disorders encompass a wide range of genetic conditions caused by an abnormality in the number or structure of chromosomes. These disorders can have major physical and mental health effects, including cognitive and developmental delays, physical malformations, and certain types of cancer. But first, let's understand more about chromosomal disorders and their causes.

What is Chromosomal Disorder?

Chromosomes are structures in the nucleus of cells that contain DNA. They hold the genetic instructions for growth, development and health. In humans, there are 23 pairs of chromosomes; one set is inherited from each parent. Abnormalities in the number or structure of these chromosomes can cause chromosomal disorders.

When changes occur in the number or structure of chromosomes, it can cause problems with physical and mental development. Chromosomal disorders can be caused by a problem that occurs as an egg and sperm join together or when cells divide during fetal development.

Changes in the structure of chromosomes, such as a missing or extra piece of a chromosome, can also cause chromosomal disorders. Common examples of chromosomal disorders include Down syndrome, Klinefelter syndrome, Turner syndrome and Trisomy 18. Symptoms of chromosomal disorders vary greatly from one disorder to another but may include developmental delays and intellectual disability.

Types of Chromosomal Disorders

There are two types of chromosomal disorders: numerical and structural.

  • Numerical:

Numerical disorders involve an incorrect number of chromosomes due to either an extra chromosome (trisomy) or a missing chromosome (monosomy). Examples of numerical chromosomal disorders include Down syndrome (trisomy 21), Patau Syndrome (trisomy 13) and Turner Syndrome (monosomy X).

  • Structural:

Structural changes involve rearrangements of the genetic material on chromosomes, such as deletions, duplications, translocations, and inversions. Examples of structural chromosomal disorders include Cri-du-Chat Syndrome (deletion 5p) and Klinefelter Syndrome (XXY).


Here are some common symptoms of chromosomal disorders:

  • Delayed growth and development
  • Learning disabilities
  • Birth defects
  • Vision and hearing loss
  • Heart defects
  • Abnormal physical features such as extra fingers or toes, a cleft palate, or a webbed neck
  • Intellectual disability
  • Abnormal facial features, such as a small head or a flat nose
  • Diabetes
  • Seizures
  • Abnormalities with the arms, legs or other body parts
  • Behaviour and social problems

Depending on the type of chromosomal disorder, symptoms may vary. However, some common signs and symptoms include birth defects, intellectual disability, physical abnormalities, delays in physical and mental development, and problems with motor skills. 

What Causes Chromosomal Disorders?

Chromosomal disorders are typically caused by random errors that occur during cell division called meiotic nondisjunction. This occurs when chromosomes fail to separate properly during cell division resulting in an unequal distribution of chromosomes between daughter cells. This can result in an abnormal number of chromosomes in the daughter cells, which can lead to developmental problems. Other potential causes include environmental factors such as exposure to certain medications or radiation, viral infections, and other genetic mutations not related to meiotic nondisjunction.      

Risk Factors

Several risk factors increase the likelihood of chromosomal disorders. These include:

  • Advanced maternal age (over 35)
  • Parental exposure to environmental agents
  • Chromosomal abnormalities in the parent
  • A family history of chromosomal disorders
  • A history of miscarriages


The treatment for chromosomal disorders depends on the type and severity of the disorder. Some treatments may include physical therapy, medications, speech therapy, occupational therapy, and other interventions such as surgery or genetic counselling. Genetic counselling can help families understand the causes of chromosomal disorders and provide information on available resources and support.

In addition to medical treatments, families of children with chromosomal disorders need to provide a supportive and loving environment. With love and care, children with chromosomal disorders can reach their highest potential. For more information, you can call Apollo Fertility Varanasi at 1860-500-4424.


Chromosomal disorders are caused by changes in the number or structure of chromosomes which often leads to health problems such as physical or mental disabilities. While some chromosomal disorders can be inherited from parents due to genetic mutations, other cases may be caused by environmental factors like exposure to radiation or medications. It is important to speak with your healthcare provider if you have any concerns about chromosomal disorders so they can provide you with appropriate testing and treatment options if necessary. In addition, understanding more about chromosomal disorders can help you make informed decisions about your health and well-being.

1. What are chromosomal disorders?

Chromosomal disorders are caused by changes in the number or structure of chromosomes and can lead to physical or mental disabilities.

2. What are the signs and symptoms of chromosomal disorders?

The signs and symptoms of chromosomal disorders vary depending on the type of disorder. However, they can generally include delayed or impaired mental and physical development, facial deformities, hearing and vision impairments, heart defects and other organ anomalies.

3. How are chromosomal disorders diagnosed?

Chromosomal disorders can be diagnosed by genetic testing, such as karyotyping or chromosomal microarray. Karyotyping is a test that examines the chromosomes in cells and identifies any missing, extra or damaged chromosomes. Chromosomal microarray is a test that looks at specific sections of chromosomes to identify any changes or abnormalities.

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