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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3p- syndrome


Other Names for this Disease
  • Chromosome 3, monosomy 3p25
  • Chromosome 3pter-p25 Deletion Syndrome
  • Del(3p) syndrome
  • Deletion 3p25
  • Distal 3p deletion
Related Diseases
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Your Question

My daughter has a 3p25 deletion. How rare is this disorder? What are the chances that she will learn to walk or talk?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is chromosome 3p- syndrome?

Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 5/10/2015

How rare is chromosome 3p- syndrome?

According to Unique's disorder guide entitled '3p25 deletion,' approximately 50 people with chromosome 3p- syndrome have been described in the medical literature since the condition was first reported in in 1978. However, it is difficult to accurately estimate the exact number of people with this deletion since there is variability in the severity of the condition. People with no symptoms or only mild features may never be diagnosed.[2]
Last updated: 5/10/2015

What is the long-term outlook for people with chromosome 3p- syndrome?

The long-term outlook (prognosis) for people with chromosome 3p- syndrome varies from person to person. The severity of the condition and the associated signs and symptoms largely depend on the size and location of the deletion and the genes involved.[2]
Last updated: 5/10/2015

References
Other Names for this Disease
  • Chromosome 3, monosomy 3p25
  • Chromosome 3pter-p25 Deletion Syndrome
  • Del(3p) syndrome
  • Deletion 3p25
  • Distal 3p deletion
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.