10q Partial Trisomy

Common Name(s)

10q Partial Trisomy, Chromosome 10, Distal Trisomy 10q, Distal Trisomy 10q

10q partial trisomy, also known as distal trisomy 10q, is a genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as a flat round face with full cheeks and a large, prominent forehead, highly arched eyebrows, or widely spaced eyes, as well as slow growth and low muscle mass. Most cases are diagnosed in infancy or early childhood. Although there is currently no cure for 10q partial trisomy there are various resources to help manage the condition and treat birth defects such as surgery to correct defects or abnormalities, physical therapy, or speech therapy. Only about 40 cases have been documented. Doctors seek help from various therapists and community services to provide support and care for families affected by 10q partial trisomy. Only about 40 cases have been documented.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "10q Partial Trisomy" 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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Distal Trisomy 10q Families

Distal Trisomy 10q brings families of children with Trisomy 10q together.

Last Updated: 22 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "10q Partial Trisomy" 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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Distal Trisomy 10q Families

Distal Trisomy 10q brings families of children with Trisomy 10q together.

http://trisomy10q.darylanderson.com

Last Updated: 22 Oct 2012

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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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 "10q Partial Trisomy" returned 8 free, full-text research articles on human participants. First 3 results:

Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes.
 

Author(s): Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Fuu-Jen Tsai, Pei-Chen Wu, Dai-Dyi Town, Li-Feng Chen, Meng-Shan Lee, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2012 Mar;51(1):93-9.

 

To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes.

Last Updated: 9 Apr 2012

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Partial trisomy 10q (10q25.1 →qter) and partial monosomy 13q (13q34→qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization.
 

Author(s): Chih-Ping Chen, Yi-Ning Su, Fuu-Jen Tsai, Schu-Rern Chern, Chin-Yuan Hsu, Pei-Chen Wu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2010 Dec;49(4):539-43.

 

Last Updated: 4 Jan 2011

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Partial proximal 10q trisomy: a new case associated with biliary atresia.
 

Author(s): Philippe A Lysy, Catherine Sibille, Yves Gillerot, Françoise Smets, Etienne M Sokal

Journal: Hereditas. 2007 Nov;144(5):191-4.

 

Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic ...

Last Updated: 22 Nov 2007

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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 "10q Partial Trisomy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.