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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My great niece was just diagnosed with this 2 days ago. She is 10 months old and underwent blood tests 7 months ago. The doctors failed to tell my niece the results until two days ago. Is there any information about this disorder that we can find? My searches are turning up very minimal data.

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

What are the signs and symptoms of 3p deletion syndrome?

3p deletion syndrome may cause a wide variety of abnormalities, with the extent sometimes depending on the overall size of the deleted part. Some people with 3p deletion syndrome are described as "normal," while others are severely affected. Characteristic features of the syndrome include low birth weight, small head size (microcephaly), trigonocephaly, poor muscle tone (hypotonia), intellectual disability, growth problems, drooping of the eyelid (ptosis), and small jaw (micrognathia). Other features that may be seen include extra fingers or toes (polydactyly), kidney (renal) anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies.[2]

To read more about some of the signs and symptoms reported in people with 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the
published medical literature, and partly from Unique's database of members with a 3p deletion.
Last updated: 7/8/2014

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

What causes 3p deletion syndrome?

In most people with 3p deletion syndrome, the deletion occurs for the first time (a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.[3]
Last updated: 7/8/2014

Is 3p deletion syndrome inherited?

In most cases, 3p deletion syndrome is not inherited from a parent. It usually occurs for the first time in the affected person. However, in a few cases, the deletion is inherited from a parent. If a parent has the same deletion as the affected child, the chance for each child of that parent to have the deletion can be 50% (1 in 2). If neither parent has the deletion, it is very unlikely that they will have another child with 3p deletion syndrome.

In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism.  In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with 3p deletion syndrome.[3]

People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.
Last updated: 7/8/2014

Where can I find additional information about 3p deletion syndrome?

To read more about what is known about 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the published medical literature, and partly from Unique's database of members with a 3p deletion.

You can also find relevant articles on 3p deletion syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 7/9/2014

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.
  • Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr. August, 2013; 50(8):795-796. Accessed 7/8/2014.
  • 3p25 deletions. Unique. 2013; http://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf. Accessed 7/8/2014.
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.