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我院妇产科细胞实验室,于1985年发现1例罕见的染色体畸变49XXXXY,经医学细胞遗传学国家培训中心鉴定,确定是我国人类染色体畸变首报病例,并编入“中国人类染色体畸变和变异核型资料登记库”一书中。报告如下。患儿出生后,发现眼及外阴发育不正常。其母早孕反应重,尿酮体持续阳性一月余。孕35~(+4)周,发现腹部增长迅速,超声波检查提示:羊水过多,儿头双顶径7.8cm,肠腔(胎儿)梗阻扩张,疑肠道畸形及
Obstetrics and Gynecology Laboratory of our hospital, found in 1985, a rare chromosomal aberration 49XXXXY identified by the National Center for Medical Cytogenetics, identified as the first case of human chromosome aberration in China and incorporated into the “Chinese human chromosome aberrations and Variant karyotype registration database ”in a book. The report is as follows. Children born, found that the eye and vulva dysplasia. The mother of early pregnancy reaction, urine ketone body continued positive for more than a month. Pregnancy 35 ~ (+4) weeks, the abdomen was found to grow rapidly, ultrasound showed: polyhydramnios, biparietal diameter 7.8cm, intestinal cavity (fetal) obstruction expansion, suspected intestinal deformity and