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. Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body.. Tetrasomy 18p: MedlinePlus Genetics. Tetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose ( philtrum ), and a thin upper lip. Many affected individuals also have a high, arched roof of the mouth (palate), and a few have had a split in the roof of the mouth .. Chromosome 18p tetrasomy - National Organization for Rare Disorders. Chromosome 18p tetrasomy is a chromosomal disorder that affects many parts of the body. It occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. [1047] [1048] The symptoms of chromosomy 18p tetrasomy vary from case to case but may include abnormalities of the head .. Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p .. Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four cases of maternal origin have been reported in worldwide.This is the fifth case of tetrasomy 18p originating from ..