15
Oct

How to read Cytogenetic Formulas after Array-CGH

Reading and understanding Cytogenetic Formulas after ARRAY-CGH may be complex. Under normal circumstances each pair of chromosomes has individual characteristics: they have a specific size (length)which is measured in the number of basepairs and a specific distribution of genes within each chromosome. Chromosomes of the same pair have to be identical in their size and...
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11
Oct

Syndromes hidden within the 16p11.2 deletion region

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 to define, as the severity...
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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), visual impairment and facial dysmorphism....
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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 precursor acute lymphoblastic leukemia (BCP-ALL)....
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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, the article hopes to reveal...
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