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病例:例1,患儿,男,汉族,出生4天。第1胎1产,胎龄39周,出身体重3900g,因分娩时出头困难产钳助产,Apgar评分1min9分,5min10分,无宫内窘迫史。患儿临床表现为口角歪斜,尤以哭闹时明显,歪斜侧以右侧明显,临床诊断面神经麻痹。查体:精神状况及反应正常,心脏无明显杂音,外生殖器检查正常,四肢肌张力正常。主要相关检查结果:心脏B超正常,CT显示左侧脑室内出血。为排除遗传性疾病进行细胞遗传学检查。患儿母亲26岁,父亲33岁,身体均健康,无有毒及放射性物质接触史,否认家族遗传病史,双方家族中也均无出生类似及异常患儿。细胞遗传学检查:经外周血淋巴细胞培养,常规染色体制片,G显带分析,采用LeicaCW4000染色体图像自动分析系统对核型分析,计数30个中期分裂相,分析10个染色体核型,患儿染色体核型为:47,
Case: Example 1, children, male, Han nationality, born 4 days. First birth 1, gestational age 39 weeks, birth weight 3900g, early difficulties due to childbirth forceps midwifery, Apgar score 1min9 minutes, 5min10 minutes, no history of intrauterine distress. Clinical manifestations of children with skewed mouth, especially when crying obvious skewed to the right side of the obvious clinical diagnosis of facial paralysis. Physical examination: normal mental status and response, no obvious heart murmur, normal genital examination, limb muscle tone normal. The main relevant test results: heart B-normal, CT showed left ventricular hemorrhage. To rule out genetic diseases for cytogenetic examination. Children with a 26-year-old mother, 33-year-old father, the body is healthy, no toxic and radioactive exposure history, deny the family history of genetic disease, both families have no similar birth and abnormal children. Cytogenetic examination: Peripheral blood lymphocyte culture, conventional chromosome preparation, G-banding analysis, using LeicaCW4000 automatic image analysis system for karyotyping, counting of 30 metaphase, analysis of 10 karyotypes, children Karyotype: 47,