Chromosome 18

Common Name(s)

Chromosome 18

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 18" for support, advocacy or research.

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

Last Updated: 24 Jul 2015

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The Chromosome 18 Registry & Research Society

Our mission is to help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy, and productive lives.

Last Updated: 11 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 18" for support, advocacy or research.

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

http://www.trisomy18.org

Last Updated: 24 Jul 2015

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The Chromosome 18 Registry & Research Society

Our mission is to help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy, and productive lives.

http://www.chromosome18.org

Last Updated: 11 Apr 2013

View Details

 

General Support Organizations

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General Resources

Trisomy 18 Foundation Facebook Page

Over 43,000 Fans (as of 12/23/14) connecting with T18F news and updates and establishing peer connections to share information about Trisomy 18 and the children they love impacted with Trisomy 18.

Uploaded By: Trisomy 18 Foundation

Updated 23 Dec 2014

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Great NonProfits Top Rated NonProfit 2015

Based on public reviews by people served by the Foundation, the Foundation is again awarded a 2015 Top NonProfit Award by Great NonProfits associated with Guidestar. The Foundation was also awarded this same award in 2014, 2013 and 2012.

Uploaded By: Trisomy 18 Foundation

Updated 24 Jul 2015

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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 18" returned 138 free, full-text research articles on human participants. First 3 results:

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.
 

Author(s): Marjorie C Gondré-Lewis, Temitayo Gboluaje, Shaina N Reid, Stephen Lin, Paul Wang, William Green, Rui Diogo, Marie N Fidélia-Lambert, Mary M Herman

Journal: J. Anat.. 2015 Sep;227(3):255-67.

 

The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly ...

Last Updated: 17 Aug 2015

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Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.
 

Author(s): Xiuqing Ji, Dong Liang, Ruihong Sun, Cuiyun Liu, Dingyuan Ma, Yan Wang, Ping Hu, Zhengfeng Xu

Journal:

 

Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, ...

Last Updated: 30 Jul 2015

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Selective IgM deficiency in a boy with ring chromosome 18.
 

Author(s): F Celmeli, D Turkkahraman, Z Cetin, E Mihci, O Yegin

Journal: J Investig Allergol Clin Immunol. 2014 ;24(6):442-4.

 

Last Updated: 11 Feb 2015

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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 18" returned 3 free, full-text review articles on human participants. First 3 results:

t(8;14;18): a 3-way chromosome translocation in two patients with Burkitt's lymphoma/leukemia.
 

Author(s): Delong Liu, Josif Shimonov, Suneeta Primanneni, Yongrong Lai, Tauseef Ahmed, Karen Seiter

Journal:

 

Burkitt's lymphoma (BL) is a heterogeneous group of highly aggressive mature B-cell malignancies. It is characterized by a high rate of turnover of malignant cells and deregulation of the c-myc gene. It is typically associated with a t(8;14) translocation. Dual translocation of t(8;14) ...

Last Updated: 29 Jun 2007

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Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.
 

Author(s): R Mewar, A D Kline, W Harrison, K Rojas, F Greenberg, J Overhauser

Journal: Am. J. Hum. Genet.. 1993 Dec;53(6):1269-78.

 

Four individuals with partial duplications of the long arm of chromosome 18 were analyzed at the clinical, cytogenetic, and molecular levels. Two of the individuals had duplications of the long arm from 18q21.1-qter because of inheritance of an unbalanced translocation. Both of these ...

Last Updated: 30 Dec 1993

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Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
 

Author(s): A Schinzel, F Binkert, D M Lillington, M Sands, R J Stocks, R H Lindenbaum, H Matthews, H Sheridan

Journal: J. Med. Genet.. 1991 May;28(5):352-5.

 

We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, ...

Last Updated: 6 Sep 1991

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Chromosome 18 Clinical Research Center
 

Status: Recruiting

Condition Summary: Chromosome Aberrations; Growth Hormone Deficiency; Hypomyelination

 

Last Updated: 27 Oct 2015

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High Risk Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 15 Oct 2015

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Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 15 Oct 2015

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