患者　男，２８岁。婚后５年其妻怀孕２次。第１次孕９个月时生一男孩，小头、眼距宽、无耳、塌鼻，出生后第３天死亡。第２次孕２个月时自然流产。夫妇表型、智力正常，非近亲婚配，无有害物质接触史，否认遗传病家族史。细胞遗传学检查：常规外周血淋巴细胞培养，Ｇ显带，计 Male patient, 28 years old. 5 years after marriage his wife was pregnant 2 times. The first 9 months pregnant when a boy, small head, wide eyes, no ears, collapsed nose, died on the 3rd day after birth. 2nd pregnancy 2 months when spontaneous abortion. The couple phenotype, normal intelligence, non-relatives marriage, no contact with hazardous substances history, deny family history of genetic disease. Cytogenetic examination: conventional peripheral blood lymphocyte culture, G banding, total