论文部分内容阅读
90例Down’s综合征患者,年龄为13天～37岁(13岁以上系我科随访病人)。男56例,女34例。均经细胞遗传学研究而确诊,其中游离21-三体型85例(94.4%),G/21易位型3例(3.3%),嵌合型2例(2.2%)。有28/75的母亲可回忆起早期妊娠时的各种异常现象,如感染、先兆流产、接受放射线、高血压和精神分裂症等。这28位母亲中有17位的年龄超过31岁。头围及头颅各径线均小于年龄正常值。62.8%病例其髂骨指数小于60(正常值大于68～78以上),这一点有助于临床诊断。血清T_4及骨龄(腕骨)、血清铜均正常。14/84病例血清锌值较低(50～79μg/dl),锌与智能的关系尚不明确,尚待进一步研究。大多数病例的淋巴细胞转化率、T花环和B花环低于正常,有实验室检查的免疫缺陷现象。Down’s综合征患者脑电图异常及癫痫发病率较高可能与神经系统发育异常有关。
90 cases of Down’s syndrome patients, aged 13 days to 37 years (13 years of age and above, our department follow-up patients). 56 males and 34 females. Among them, 85 cases (94.4%) were free 21-trisomy, 3 cases were G / 21 translocation (3.3%) and 2 cases were chimerism (2.2%). 28/75 mothers recalled various abnormalities in early pregnancy, such as infection, threatened abortion, radiation exposure, high blood pressure and schizophrenia. Seventeen of these 28 mothers are over 31 years of age. Head circumference and cranial diameter lines are less than the normal age. 62.8% of patients with iliac index less than 60 (normal value greater than 68 ~ 78), which is helpful for clinical diagnosis. Serum T_4 and bone age (carpal), serum copper are normal. 14/84 cases of serum zinc value is low (50 ~ 79μg / dl), the relationship between zinc and intelligence is not yet clear, yet to be further studied. In most cases, lymphocyte transformation rate, T garland, and B rosette are below normal with laboratory-detected immunodeficiency phenomena. Down’s syndrome patients with abnormal EEG and epilepsy incidence may be related to nervous system dysplasia.