25
Oct
Duplication 14q32, leukemia and myelodysplastic syndrome
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Familial myeloid malignancy syndrome associated with the duplication of chromosome 14q32. Myeloid neoplasms refer to conditions involving abnormal growth and function of white blood cells. About 10% of patients with myeloid neoplasms are thought to have a genetic predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). A recent... Read More
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... Read More
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... 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
