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21-三体征(Down氏综合征、先天愚型)是人类最常见的染色体疾病之一,现将我们查明的二例报告如下: 病例一:李××、女、13岁,患者系第二胎足月顺产,10个月时因高热抽风住院治疗,出院时无明确诊断。5岁始会走路,至今能说简单语句,基本生活能自理。智力低下,精神不正常,爱笑,体重27公斤,身长129cm,头围46cm,枕部扁平,两眼距宽,眼稍外上斜,眼球震颤,张口,舌乳头粗,有横裂纹,牙不整齐,手指纹多呈弓形,掌指关节过渡屈曲,心肺膜无异常发现。外周血淋巴细胞核型为47xx。(见图1,封四) 患者之父母健康,表型无异常,无亲缘关系,各家系中无类似之患者,母亲34岁结婚,35岁生第一胎,37岁生患儿,39岁生第三胎,第一、三胎皆健在。
21-trisomy (Down’s Syndrome, Down’s syndrome) is one of the most common chromosomal diseases in humans. We report the following two cases: Case 1: Li × ×, female, 13 years old, Second-term full-term pregnancy, 10 months due to high fever pumping hospitalized, no clear diagnosis of discharge. 5 years old will walk, so far can say simple sentences, basic life can take care of themselves. Mental retardation, mental abnormalities, love to laugh, weight 27 kg, length 129cm, head circumference 46cm, occipital flat, wide eyes, eyes slightly oblique, nystagmus, mouth, tongue nipple, transverse crack, teeth Irregular, fingerprints and more arched, metacarpophalangeal joint transitional flexion, no abnormalities found in the heart and lung membrane. The peripheral blood lymphocyte karyotype 47xx. (See Figure 1, cover four) patients with healthy parents, phenotype no abnormality, unrelated, no similar family members, the mother married 34 years old, 35-year-old first child, 37-year-old children, 39 Third child of birth, first, third child are alive.