Chromosome 13q Deletion

Common Name(s)

Chromosome 13q Deletion

Chromosome 13p deletion syndrome, also known as monosomy 13q syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as low birth weight or cleft palate (a hole in the roof of the mouth), as well as low muscle growth, poorly developed oral motor skills, and intellectual disabilities. Although there is currently no cure for chromosome 13p deletion syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by chromosome 13p deletion syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 13q Deletion" 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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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 "Chromosome 13q Deletion" 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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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 "Chromosome 13q Deletion" returned 10 free, full-text research articles on human participants. First 3 results:

Chromosome 13q deletion with Cornelia de Lange syndrome phenotype.
 

Author(s): C T Ngo, M Alhady, A K Tan, I Siti Norlasiah, G B Ong, C N Chua

Journal: Med. J. Malaysia. 2007 Mar;62(1):74-5.

 

A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial ...

Last Updated: 31 Dec 1969

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Deletion mapping of chromosome 13q in head and neck squamous cell carcinoma in Indian patients: correlation with prognosis of the tumour.
 

Author(s): Md Golam Sabbir, Anup Roy, Syamsundar Mandal, Aniruddha Dam, Susanta Roychoudhury, Chinmay Kumar Panda

Journal: Int J Exp Pathol. 2006 Apr;87(2):151-61.

 

Deletions in chromosome (chr.) 13q occur frequently in head and neck squamous cell carcinoma (HNSCC). Previous studies failed to identify common deleted regions in chr.13q, though several candidate tumour suppressor genes (TSGs) loci, e.g. BRCA2, RB1 and BRCAX have been localized ...

Last Updated: 31 Dec 1969

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CD44v6, a target for novel antibody treatment approaches, is frequently expressed in multiple myeloma and associated with deletion of chromosome arm 13q.
 

Author(s): Peter Liebisch, Susanne Eppinger, Christine Schöpflin, Gerd Stehle, Gerd Munzert, Hartmut Döhner, Mathias Schmid

Journal: Haematologica. 2005 Apr;90(4):489-93.

 

Despite recent advances in the treatment of multiple myeloma (MM), this disease remains incurable in the majority of patients. Therefore, innovative treatment strategies are mandatory. Bivatuzumab mertansine is a novel cytotoxic immunoconjugate specifically targeting the CD44 splice ...

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 13q Deletion" 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.