Chromosome 18, trisomy 18p
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Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been… Expand Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked… Expand We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ… Expand We report one patient with a de novo inversion duplication 18 (ptercen) and two cases of direct tandem duplication 18 (ptercen… Expand Cotton C, Cummins M, Smith A. Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13: 18) (q12;q11… Expand Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor… Expand We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy… Expand