3p deletion syndrome
Other Names for this Disease
- 3p- syndrome
- Chromosome 3, monosomy 3p25
- Del(3p) syndrome
- Deletion 3p25
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Your QuestionMy daughter has a 3p25 deletion. How rare is this disorder? What are the chances that she will learn to walk or talk?
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Questions on this page
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.
Last updated: 7/8/2014
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. 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
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