20
Mar
5q14.3 Deletion
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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
