Category

Latest Research Articles

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,...
Read More
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...
Read More
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...
Read More

You are donating to :
Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization.
P.O. Box 724
Boca Raton FL 33429
561-395-4252

A COPY OF THE OFFICIAL REGISTRATION AND FINANCIAL INFORMATION MAY BE OBTAINED FROM THE DIVISION OF CONSUMER SERVICES BY CALLING TOLL-FREE 1-800-HELP-FLA OR ONLINE AT www.FloridaConsumerHelp.com, REGISTRATION DOES NOT IMPLY ENDORSEMENT, APPROVAL, OR RECOMMENDATION BY THE STATE." REGISTRATION #: CH11200
How much would you like to donate?
$25 $50 $100
Would you like to make regular donations? I would like to make donation(s)
How many times would you like this to recur? (including this payment) *
Name *
Last Name *
Email *
Phone
Address
Additional Note
Loading...