涉及4条染色体的复杂重排(CCR)很少见。迄今只报道过15例,其中大部分为新发生的平衡型CCR。本文报道一例具有严重智力障碍的27岁妇女,则为新发生的非平衡型CCR。先证者出生时,其父母年龄分别为36岁及35岁,妊娠期间无药物、放射线接触史及传染病史,无智力障碍等家旅史。先证者的 7个同胞及其子女均正常。先证者出生体重为2600g,肌张力增高,运动发育迟缓。5岁时出现严重惊厥,5岁半时,其运动功能大约相当于1岁婴儿水平。先证者心情极度焦虑,双手肌张力明显增高,伴有震颤。身高170cm,体重42kg。脸上多毛,座疮明显.眼睑外翻,眼球震颤,近视伴散光。颈短,心脏听诊正常。脊柱侧凸,四肢肌张力增加并出现大脑强直性 Complex rearrangements (CCRs) involving four chromosomes are rare. To date, only 15 cases have been reported, the majority of which are newly occurring CCRs. This article reports a 27-year-old woman with a severe mental retardation as a newly emerging unbalanced CCR. When the proband was born, his parents were 36 years old and 35 years old respectively. During the pregnancy, they had no history of drug or radiation exposure, no history of infectious diseases and no mental retardation. The seven sibs of the proband and their children are all normal. Probationary birth weight of 2600g, increased muscle tone, motor retardation. Serious convulsions occur at 5 years of age and at 5 and a half years their motor function is approximately equivalent to that of a 1-year-old infant. Proximity anxiety extreme anxiety, muscle tension was significantly higher hands, accompanied by tremor. Height 170cm, weight 42kg. Face hairy, acne obvious eyelid eversion, nystagmus, myopia with astigmatism. Short neck, auscultation of the heart normal. Scoliosis, limb muscle tension increased and the emergence of brain rigidity