Chromosome 2p Duplication

Common Name(s)

Chromosome 2p Duplication, Chromosome Two Duplication, Chromosome 2 Duplication Disease, Two Duplication Syndrome, 2 Duplication Syndrome, Chromosome Two Duplication Syndrome, Chromosome 2 Duplication

2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.

Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.

Symptoms of 2p duplications may include developmental delays, intellectual difficulties, communication difficulties, difficulties with gross and fine motor skills, and heart and breathing (respiratory) issues. There are other symptoms that are associated with 2p duplications, but they vary widely between different individuals. Affected individuals may have trouble communicating with spoken (verbal) language, and will resort to using nonverbal language, like hand gestures, instead. Parents generally find their affected children to be very warm, friendly, and a joy to be around. It is also possible for adults with this condition to live a relatively normal life, with some assistance.

Although there is currently no cure for 2p duplications, there are various resources to help manage the condition and treat birth defects. Support groups are a great resource for support and information. Talk with a genetic counselor or specialist if you or someone in your family has been diagnosed with a 2p duplication.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 2p Duplication" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

Last Updated: 7 Aug 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders. Support can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

Last Updated: 2 Sep 2015

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Support Organization for Trisomy in Australia

S.O.F.T. Australia is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders.

Last Updated: 4 Mar 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 2p Duplication" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

http://www.hopefortrisomy13and18.org

Last Updated: 7 Aug 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders. Support can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

http://www.trisomy.org

Last Updated: 2 Sep 2015

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Support Organization for Trisomy in Australia

S.O.F.T. Australia is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders.

http://www.trisomyaustralia.com/

Last Updated: 4 Mar 2015

View Details

 

General Support Organizations

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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 "Chromosome 2p Duplication" returned 1 free, full-text research articles on human participants. First 3 results:

Germline duplication of chromosome 2p and neuroblastoma.
 

Author(s): J S Patel, J Pearson, L Willatt, T Andrews, R Beach, A Green

Journal: J. Med. Genet.. 1997 Nov;34(11):949-51.

 

A child with a germline duplication of chromosome 2p, 46,XY,der(13)t(2;13)(p23;q34), who developed a fatal neuroblastoma confirmed at necropsy is reported. Fluorescent in situ hybridisation studies showed chromosome 2p (p23-pter) duplicated on chromosome 13 (q34). The clinical features ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome 2p Duplication" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.