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Guide to Chromosomal Disorders

Chromosomal Disorders: Symptoms, Causes, and Treatment

Learn about the different types of chromosomal disorders, including symptoms, causes, and treatment options. Understand the importance of early diagnosis and learn about the various tests used to detect chromosomal disorders.

Chromosomal disorders are a group of conditions that occur due to abnormal changes in the number or structure of chromosomes. Chromosomes are the structures in our cells that carry our genetic information. These disorders can have a wide range of effects on an individual's development and health. In this article, we will explore the different types of chromosomal disorders, their symptoms, causes, and treatment options.

Signs & symptoms

Symptoms of chromosomal disorders can vary widely depending on the specific disorder. Some common signs and symptoms include:

  • Growth delays
  • Intellectual disabilities
  • Birth defects
  • Abnormal facial features
  • Weak muscle tone
  • Abnormal body shape
  • Trouble with coordination and balance

It's important to note that some chromosomal disorders may not have any visible symptoms.

Causes of Chromosomal disorders

Chromosomal disorders can be caused by a variety of factors. Some common causes include:

  • Nondisjunction, in which the chromosomes fail to separate properly during cell division
  • Translocation, in which a piece of a chromosome breaks off and attaches to another chromosome
  • Deletion, in which a piece of a chromosome is missing
  • Duplication, in which a piece of a chromosome is duplicated
  • Inversion, in which a piece of a chromosome breaks off and reattaches in the reverse orientation

Treatment options

Treatment options for chromosomal disorders can vary depending on the specific disorder and the symptoms that an individual is experiencing. Some common treatment options include:

  • Physical therapy
  • Speech therapy
  • Occupational therapy
  • Special education services
  • Medications to control symptoms
  • Surgery to correct physical abnormalities

Getting tested

There are a variety of tests that can be used to diagnose chromosomal disorders. Some common tests include:

  • Chromosome analysis
  • Fluorescence in situ hybridization (FISH)
  • Microarray analysis
  • Prenatal testing (such as chorionic villus sampling or amniocentesis)

If you suspect you or your child may have a chromosomal disorder, it's important to speak with a doctor about getting tested. Early diagnosis and treatment can greatly improve the outcome for individuals with chromosomal disorders.

At STLCCH, our pediatric and adult neuropsychologists can perform the cognitive testing necessary to identify particular strengths and weaknesses that inform questions like living arrangements, school or work accommodations, or guardianship.

Chromosomal disorders FAQs

What are the most common chromosomal disorders?

The most common chromosomal disorders include Down syndrome, Turner syndrome, and Klinefelter syndrome.

Can chromosomal disorders be treated?

While chromosomal disorders cannot be cured, treatment options such as physical therapy, speech therapy, and special education services can greatly improve the outcome for individuals with chromosomal disorders.

Are chromosomal disorders inherited?

Some chromosomal disorders are inherited, while others occur spontaneously. It's important to speak with a genetic counselor to understand the specific cause and inheritance pattern of a chromosomal disorder.

Can chromosomal disorders be prevented?

Since chromosomal disorders can occur spontaneously or be inherited, it is not always possible to prevent them. However, genetic counseling and prenatal testing can help identify chromosomal disorders early on and allow for appropriate medical management.

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