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Two unrelated patients with a de novo partial trisomy 8 (q21 leads to qter) are presented. They had strikingly similar phenotypes, characterised by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia, and a very short neck. A cleft palate, cardiac defects, and hydronephrosis were present in both patients. The relation between the 8qter syndrome and trisomy 8 (Warkany syndrome) is discussed.

Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.