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Genetic and Rare Diseases Information Center (GARD)

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3p deletion syndrome


Other Names for this Disease

  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
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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 3p deletion syndrome?

3p deletion syndrome is a rare chromosome disorder characterized by a missing (deleted) part of the short arm of chromosome 3 (known as 3p). The signs and symptoms vary. Some affected people appear to have no features or mild features, but most have been more severely affected. Features of the condition may include low birth weight, small head size (microcephaly), trigonocephaly, poor muscle tone (hypotonia), intellectual disability, growth delay, ptosis of the eye, and small jaw (micrognathia). Other features that have been reported include polydactyly, kidney anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies. The loss of several genes on the deleted part of the chromosome is responsible for the features of the condition. The range and severity of features sometimes depends on the size of the missing piece of the chromosome. The loss of a specific region called 3p25 is thought to cause many of the more common features. The deletion usually occurs for the first time in the affected person (called a de novo mutation) but it can be inherited from a parent.[1]
Last updated: 7/8/2014

How rare is 3p deletion syndrome?

An article published in 2006 stated that as of that time, 42 individuals with 3p deletion syndrome had been reported in the literature. The authors of that article also discussed two additional mildly affected individuals.[1] It is difficult to ascertain how many individuals have actually had this chromosome abnormality; there may have been diagnosed individuals that were not reported in the literature, or either symptomatic or asymptomatic individuals who have not been tested.
Last updated: 2/4/2011

What is the prognosis for individuals with 3p deletion syndrome?

Because of the limited number of cases reported in the literature and the wide range of symptoms and severity that have been reported, prognosis is difficult to predict. A person's prognosis likely depends on the specific features that are present, as well as how severely affected that person is.
Last updated: 7/8/2014

References
  • Jennifer Takagishi, Katherine A. Rauen, Timothy Drumheller, Boris Kousseff, Maxine Sutcliffe. Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. American Journal of Medical Genetics. July 15, 2006; 140A(14):1587-1593.
Other Names for this Disease
  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.