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病例1,患者,女,24岁,因“停经29+1周,腹痛伴阴道流血10h”收入院。查体:身高155cm,体重未测;智力低下,眼距宽,眼裂小,外眼角上斜,耳位较低,鼻根部扁平,伸舌貌。患者的父母系近亲结婚。患者染色体核型为47,XX,+21;丈夫染色体核型正常。孕妇孕期定期检查,各项指标均在正常范围内。患者入院后完善相关辅助检查,有不规律宫缩,家属强烈要求保胎治疗。于4日后在会阴侧切术下以RSA位助娩一女婴,体重1000g,外观无21-三体综合征征象。生后Apgar评分1min 4分,
Case 1, patients, female, 24 years old, because of “menopause 29 +1 week, abdominal pain with vaginal bleeding 10h ” income hospital. Physical examination: height 155cm, weight not measured; mental retardation, wide eyes, small eyelid, the upper corner of the eye oblique, lower ear, nasal flat, stretch tongue appearance. Patient’s parents get married. Patient karyotype 47, XX, +21; husband’s karyotype normal. Pregnant women during pregnancy check, all indicators are within the normal range. After admission to improve the relevant auxiliary examination, irregular contractions, family members strongly requested miscarriage treatment. After 4 days in the episiotomy lateral RSA to help deliver a baby girl, weighing 1000g, the appearance of signs of 21-trisomy syndrome. Apgar score after birth 1min 4 points,