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Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 3p- syndrome


Other Names for this Disease
  • Del(3p) syndrome
  • Chromosome 3, monosomy 3p25
  • Deletion 3p25
  • Chromosome 3pter-p25 Deletion Syndrome
  • Telomeric monosomy 3p
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.

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 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

What are the signs and symptoms of chromosome 3p- syndrome?

The signs and symptoms of chromosome 3p- syndrome and the severity of the condition 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 condition include:[1][2]
  • Growth problems both before and after birth
  • Feeding difficulties
  • Developmental delay
  • Poor muscle tone (hypotonia)
  • Intellectual disability
  • Ptosis
  • Distinctive facial features
  • Microcephaly and/or unusual head shape
  • Autism spectrum disorder

Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects.[1][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: 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

What causes chromosome 3p- syndrome?

In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called 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.[2]
Last updated: 5/10/2015

Is chromosome 3p- syndrome inherited?

In most cases, chromosome 3p- syndrome occurs for the first time in the affected person (de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child.

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 chromosome 3p- syndrome.[4]

People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.
Last updated: 5/10/2015

Where can I find additional information about chromosome 3p- syndrome?

To read more about what is known about chromosome 3p- 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 chromosome 3p- 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: 5/10/2015

References
Other Names for this Disease
  • Del(3p) syndrome
  • Chromosome 3, monosomy 3p25
  • Deletion 3p25
  • Chromosome 3pter-p25 Deletion Syndrome
  • Telomeric monosomy 3p
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.