17
May
Deleción 1p31.3
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Deleción 1p31.3 La condición más conocida causada por la deleción del brazo corto del cromosoma 1 es la deleción 1p36. Sin embargo, estudios recientes muestran que varios síndromes más pueden atribuirse a deleciónes de otros segmentos del 1p. Una de estas condiciones es la deleción del segmento 1p31.3. Este segmento... Read More
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... Read More
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... Read More
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... Read More
