Tag

chromsome deletion

21
Mar

8p11 Deletions

8p11 Deletions Segment 8p11 is the area of the short arm of chromosome 8 closest to the centromere. This segment includes at least 3 clinically important genes: SLC20A2, ANK1, and FGFR1. Each of these genes has their own separate functions and is causal of specific clinical features. Deletions of this...
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15
Mar

3q21 Deletions

Deletions 3q21 The chromosomal segment 3q21 includes a very important GATA2 gene. This gene creates a transcription factor that is typically expressed in hematopoietic pro-genitor cells like mast cells, megakaryocytes, early erythroid cells, and is critical for hematopoiesis (generation of blood cells)1. Malfunction or absence of this gene leads to...
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14
Mar

2q33 Deletion

2q33 Deletion The chromosomal segment 2q33 includes several genes. One of these genes – SATB2 is a key transcription factor that aids in neural development and activates several other genes simultaneously. When it is absent, cortico-cortical neurons cannot be specified and axons cannot cross the corpus callosum1. Defects in this...
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