16
Aug

13q34 deletions and the role of genes SOX1 and ARHGEF7

13q34 deletions – or deletions at the terminal segment of the long arm of chromosome 13 – are very rare. Therefore, symptoms of 13q34 deletions are not well described. This article reports two brothers with 13q34 deletions, whose symptoms include intellectual disability, epilepsy, and genitourinary tract defects. From these cases, the article hopes to reveal...
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15
Aug

Chromosome 14q 32, the DICER1 gene and elevated cancer risk

The DICER1 gene is located in the 14q32 region within the long arm of chromosome 14. It encodes for a protein responsible for regulating numerous other genes during development. When DICER1 is lost due to mutation or deletion, this regulation is disrupted, resulting in elevated cancer probability. Because of this, loss of DICER1 results in...
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12
Jul

Recognizing Williams-Beuren syndrome in diverse populations

Williams-Beuren syndrome (WBS) is a genetic disorder caused by a deletion in 7q11.23 – a region within the long arm of chromosome 7. Symptoms of WBS include intellectual disability, hypersocial behavior (a characteristically friendly personality), facial abnormalities, cardiovascular disease, short stature, connective tissue abnormalities, and endocrine (hormonal) abnormalities. Common facial abnormalities include a broad forehead,...
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06
Jul

5q14.3 deletions, the ADGRV1 gene and epilepsy

Chromosome 5q14.3 deletions – deletions within a region of the long arm of chromosome 5 – cause intellectual disability, epilepsy, dysmorphisms (abnormal differences in body structure), structural brain abnormalities, and hypotonia (low muscle tone.) Seizure types found in 5q14.3 deletions typically include myoclonic seizures, infantile onset of febrile seizures, and infantile spasms. Common structural brain...
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28
Jun

Summer 2018 Newsletter – Issue No. 81

Hello everyone! 2018 is CDO’s 26th year of providing support for all those coping with a rare chromosome disorder diagnosis. We hope you will visit our website to learn more about the many ways CDO helps individuals and families. And while there, please also check out our You Can Help page. As a charity, CDO...
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You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization.

100% of donations received fund programs supporting those affected by rare chromosome disorders. CDO does not employ professional fundraisers. CH11200 FL Registration Number. A copy of the official registration may be obtained from the Division of Consumer Services by calling 800-435-7352.
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