Chromosome disorders

Chromosome disorders are congenital diseases with abnormalities of large portions of genetic material. They tend to be less strongly inherited than single-mutation genetic diseases, and are often born to parents without any disorders. The best known chromosomal disorder is Down Syndrome, also called Trisomy 21 because it has a ...

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Introduction: Chromosome disorders

Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes. Structural changes can occur ...1

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Symptoms of Chromosome disorders

What signs and symptoms are associated with rare chromosome disorders? In general, the effects of rare chromosome disorders vary. With a loss or gain of chromosomal material, symptoms might include a combination of physical problems, health problems, learning difficulties and ...2

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Causes of Chromosome disorders

Chromosome disorders are caused by an excess or deficiency of the genes that are located on chromosomes, or by structural changes within chromosomes. (See the NHGRI fact sheet about chromosome abnormalities; Down syndrome, for example, is caused by an extra ...3

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Causes List for Chromosome disorders

Some possible causes of Chromosome disorders or similar disorders may include:4

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Types of Chromosome disorders

The major categories of Chromosomal Disorders include:

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Types of Chromosome disorders

Chromosome Disorders

  • 15q13.3 microdeletion syndrome
  • 16p11.2 deletion syndrome
  • 17q23.1q23.2 microdeletion syndrome
  • 1q21.1 microdeletion syndrome
  • 22q11.2 deletion syndrome
  • 22q11.2 duplication syndrome
  • 2q23.1 microdeletion syndrome
  • 2q37 deletion syndrome
  • 47 XXX syndrome
  • 47, XYY syndrome ...
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Diagnosis of Chromosome disorders

How are chromosome disorders diagnosed? Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities. Several types of genetic tests can identify chromosome disorders:

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Genetics of Chromosome disorders

Can chromosome disorders be inherited? Although it is possible to inherit some types of chromosomal disorders, many chromosomal disorders are not passed from one generation to the next. Chromosome disorders that are not inherited are called de novo, which means ...5

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Risk Factors for Chromosome disorders

Other factors that can increase the risk of chromosome abnormalities are:

  • Maternal Age: Women are born with all the eggs they will ever have. Some researchers believe that errors can crop up in the eggs' genetic material as they age ...
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Research for Chromosome disorders

How can I find research studies for individuals with chromosome disorders? The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository was established in 1972 to provide a readily accessible, centralized resource for genetic material from individuals with ...6

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  1. Source: GHR (NLM/NIH): primer/ mutationsanddisorders/ structuralchanges
  2. Source: GARD (NIH): guides/ pages/ 73/ faqs-about-chromosome-disorders
  3. Source: NHGRI (NIH): 19016930/ faq-about-genetic-disorders/ 
  4. Source: Algorithmically Generated List
  5. Source: GARD (NIH): guides/ pages/ 73/ faqs-about-chromosome-disorders
  6. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.