患者,女,24岁。系第6胎第6产,足月顺产。出生时父43岁,母38岁。父、母、兄及4个姐姐表型均正常。母染色体核型正常,父已死未作。患者于23岁结婚,丈夫25岁其表型正常。患者身高140cm,鼻梁低平,外侧眼角上吊,眼裂细,耳位低,双手纹理未见明显异常。智力低下,生活不能完全自理。外周血染色体共检查核型40个,均为47,XX,+21。于1986年12月 Patient, female, 24 years old. Department of the sixth 6th birth, full-term birth. 43 years old at birth, the mother 38 years old. Father, mother, brother and four sister phenotype are normal. The karyotype of the mother chromosome is normal, the father is dead. The patient was married at age 23 and her husband was 25 years old and had a normal phenotype. Patient height 140cm, nose low, the outer corner of the eye hanging, fine eye, ear low, no obvious abnormal texture of both hands. Mental retardation, life can not completely take care of themselves. A total of 40 karyotypes were examined in peripheral blood chromosomes, all of which were 47, XX and +21. In December 1986