21
Mar
8p11 Deletions
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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
21
Mar
6q26-6q27 Deletions
Deletions 6q26-6q27 Bands 6q26 and 6q27 are the most distal segments of the long arm of chromosome 6. Many patients have been identified as having deletions in this area. Isolated deletions of 6q26 are interstitial, while deletions involving 6q27 are mostly terminal. A majority of these deletions occur de novo,... Read More
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... Read More
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.... 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
