Sachs E S, van Waveren G
J Med Genet. 1981 Jun;18(3):204-8. doi: 10.1136/jmg.18.3.204.
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.
本文报告了两名无关的新发8号染色体部分三体（q21至qter）患者。他们具有惊人相似的表型，特征为面部宽阔、眼距增宽、鼻基底宽阔、耳部畸形、小颌畸形以及颈部极短。两名患者均存在腭裂、心脏缺陷和肾积水。文中讨论了8qter综合征与8号染色体三体（瓦尔卡尼综合征）之间的关系。
