March 18, 2024


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....
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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...
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