18—三体综合征(18—trsomy syndrome)是一种罕见的常染色体异常的疾病,由于染色体畸变的情况不一,故其表现型与活存情况亦有所不同。多数临床表现为多发严重畸形。在外形方面可表现为皮肤多毳毛、前发际低,眼裂小、两耳低位、腭弓高狭、小颌,手足畸型,关节活动受限。在内脏方面有心,脑、肝,肠、胆道等方面畸形。本病自 Edwards1960年报道以来屡有报告,新生儿中约有五千分之一发生本病。细胞遗传学研究认为大部分是纯18—三体,少部份为嵌合体,近来随着 G 分带技术的应用,还发现部分18—三体易位、倒位,也可导致18—三体的表现型,还发现父母有平衡易位携带者。 18-trsomy syndrome is a rare disease of autosomal abnormalities. Due to the different conditions of chromosomal aberrations, the phenotype and the survival of 18-trsomy syndrome are different. The majority of clinical manifestations of multiple severe deformity. In appearance can be expressed as multiple beard hair, before the hair low, small eyelid, both ears low, high narrow palatal arch, chin, hand-foot deformity, limited joint activity. Heart in the viscera, brain, liver, intestine, biliary tract and other aspects of deformity. This disease has been repeatedly reported in the 1960 report by Edwards. About one in five thousand newborns had this disease. Cytogenetics that most of the pure 18-trisomy, a small part of the chimera, with the recent G-banding technology, but also found that some 18-trisomic translocation, inversions can also lead to 18-tris Body phenotype, also found that parents have balanced translocation carriers.