3p deletion syndrome

Common Name(s)

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.
 

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Condition Specific Organizations

Following organizations serve the condition "3p deletion syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "3p deletion syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

3p deletion syndrome.
 

Author(s): Anupam Kaur, S Khetarpal

Journal: Indian Pediatr. 2013 Aug;50(8):795-6.

 

3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before.

Last Updated: 16 Sep 2013

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Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
 

Author(s): Thomas Fernandez, Thomas Morgan, Nicole Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P Lifton, Matthew W State

Journal: Am. J. Hum. Genet.. 2008 Jun;82(6):1385.

 

Last Updated: 11 Jun 2008

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Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
 

Author(s): Thomas Fernandez, Thomas Morgan, Nicole Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P Lifton, Matthew W State

Journal: Am. J. Hum. Genet.. 2004 Jun;74(6):1286-93.

 

3p deletion syndrome is a rare contiguous-gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. All reported cases have involved, at a minimum, the deletion ...

Last Updated: 10 May 2004

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Reviews from the PubMed Database

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The terms "3p deletion syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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