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Latest Research Articles

11
Oct

14q13 deletion and neurodevelopmental symptoms

Deletions within the chromosome 14q13 region contribute to neurodevelopmental symptoms such as hypotonia and developmental delay. The article discusses two siblings – a boy and a girl – with a unique, familial 2.4 Mb deletion within 14q13.1q14.3. Shared symptoms for both siblings include seizures, developmental delay, hypotonia (low muscle tone),...
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10
Oct

Microdeletion of 7p12.1p13, intellectual impairment, overgrowth and susceptibility to leukemia

Microdeletion of 7p12.1p13, including IKZF1 , causes intellectual impairment, overgrowth, and susceptibility to leukemia. Mutations within the IKZF1 gene cause a number of severe symptoms, including hypogammaglobulinemia, B cell deficiency (a lack of B cells, which negatively affects the immune system), and a predisposition to childhood leukemia, including B cell...
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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,...
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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...
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