Wolf－Hirschhorn综合征是由4号染色体短臂远端缺失引起的，其典型的临床症状是严重的生长迟缓、精神障碍、小头、眼组织损伤、唇裂、愕裂、先天性心脏病及生殖器异常。其中90％的病例中4号染色体的缺失是新发事件，其余来自于家族性平衡易位。有人报道过一些W－H病列是由只有 Wolf-Hirschhorn syndrome is caused by the absence of the distal short arm of chromosome 4 and is characterized by severe growth retardation, mental retardation, microcephaly, ocular tissue injury, cleft lip, achilles, congenital heart disease and genitalia abnormal. In 90% of the cases, the deletion of chromosome 4 is a new event, and the rest comes from the familial equilibrium translocation. Some people have reported that some of the W-H disease is caused by only