11
Sep
Wisconsin Syndrome
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Wisconsin Syndrome Wisconsin Syndrome is caused by deletions of the q25 segment on the long arm of chromosome 3. Deletions of 3q25 are relatively rare, but there are established criteria required for an individual to receive a diagnosis of Wisconsin Syndrome1. An individual must present with four of the following... Read More
18
Mar
3q29 Deletion Syndrome
3q29 Deletion Syndrome The segment 3q29 is a terminal portion of the long arm of chromosome 3. Hemizygous deletions of this segment occur relatively frequently; several hundred individuals with this deletion have been reported so far. Most patients have a “standard” 1.6 Mb deletion. In most cases, deletions occur de... 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
