作者等对怀疑有遗传性疾病的202例患者进行了临床及染色体检查,确诊为21号三体者30例,其中易位型5例、嵌合型2例。30例中3例死亡。13号三体者1例,为遗传型易位型(13/14),无眼、无鼻、无嗅脑、三腔心、多指(趾)畸形,生后便死亡。18号三体者2例,1例有严重心脏缺陷,生后三天死于心衰,另1例大脑发育不全,生后18小时死于呼吸衰竭。 The authors conducted clinical and chromosomal examinations of 202 patients suspected of having inherited disease, diagnosed as trisomy 21 in 30 cases, including 5 cases of translocation and 2 cases of chimerism. Three of 30 patients died. 13 cases of trisomy in 1 case, the genetic type (13/14), no eye, no nose, no olfactory brain, three-chamber heart, multiple finger (toe) deformity, died after birth. There were 2 cases of trisomy 18, 1 case of severe heart defects, 3 days after birth died of heart failure, another 1 case of hypoplasia, died of respiratory failure 18 hours after birth.