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

E S Sachs, G van Waveren
1981 Journal of Medical Genetics  
Two unrelated patients with a de novo partial trisomy 8 (q21-*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. 204 on 22 July 2018 by guest. Protected by copyright.
doi:10.1136/jmg.18.3.204 fatcat:wl6gr4pfqnh3zprvvitatny63i