20
Mar

5q14.3 Deletion

5q14.3 Deletion (MEF2C Deficiency Syndrome) The segment 5q14 in the proximal part of the long arm of chromosome 5 contains many important neural genes, including the MEF2C gene, located at 5q14.3. Deletions of this gene causes a complex of neurodevelopmental problems including intellectual disability, developmental delay and seizures. MEF2C, a key gene involved in 5q14.3...
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18
Mar

5p13.2 Deletion (Cornelia de Lange Syndrome)

5p13.2 Deletion (Cornelia de Lange Syndrome) Cornelia de Lange syndrome (CdLS) is a well-known disorder. In typical cases this condition is characterized by severe prenatal hypoplasia (and postnatal growth delay), microcephaly, facial dysmorphism and multiple abnormalities of the extremities. The most common internal defects are diaphragmatic hernia and intestinal malrotation. Dysmorphic features include long eyelashes,...
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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 ‚Äústandard‚ÄĚ 1.6 Mb deletion. In most cases, deletions occur de novo but there are reports...
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17
Mar

3q26.33 Deletions

3q26.33 Deletions The chromosomal segment 3q26.33 contains the SOX2 gene. This gene creates a transcription factor that is very active during early development and plays an important role in the generation of neurons and the maintenance of stem cell pluripotency1. Mutations in this gene, as well as deletions including this area of the long arm...
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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 the myelodysplastic syndrome (MDS). MDS...
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