16
Mar
Chromosome 3q21 deletion and GATA2 gene mutation
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Chromosome 3q21 deletion and GATA2 gene mutation can cause immunodeficiency and other problems leading to cancer. The chromosomal segment 3q21 contains several genes, including the GATA2 gene. This gene encodes a zing finger transcription factor expressed in the precursors of several sorts of blood cells. Mutations of the GATA2 gene... Read More
25
Oct
Duplication 14q32, leukemia and myelodysplastic syndrome
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
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
