11
Oct
Syndromes hidden within the 16p11.2 deletion region
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16p11.2 is a region of chromosome 16 particularly prone to deletions and duplications. Copy number variations (CNVs) are defined as specific regions within a chromosome that are either deleted or duplicated. CNVs can either be inherited or can occur spontaneously in patients during development. The effects of CNVs are difficult... Read More
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),... Read More
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... Read More
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
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,... Read More
