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患儿男,5月龄,住院号50853。因咳嗽气急2天,发热5小时于1985年6月8日以“支气管肺炎”收治入院。患儿系第2胎,为孕34周早产儿。父母身体健康,父28岁,无接触有害物质史;母23岁,自1980年以来在羽毛制品厂工作,有化学颜料接触史,怀孕过程未患急性传染病。第1胎产于1983年9月,孕32周,早产,为女婴,体重1.650克,养育20余天因“肺炎”、“先天性心脏病”治疗无效死亡。父母双方家族中无类似患者。体检:营养中等,表情呆滞,反应迟缓。鼻梁低平,眼间距宽,耳位低下,腭弓高尖,后枕扁平,偶有张口伸舌现象。两肺有湿性罗音。心脏未闻及杂音。四肢骨骼活动自如,无畸形。X线检查:两肺纹理增多增粗,并有小点状模糊阴影,心影及两膈无殊。皮纹检查:左右手atd角均为75°,左手为桥贯手(变异I型),10指均为尺箕。染色体检查结果:患儿外周血淋巴细胞染色体培养72小时,镜下计数50个细胞,染色体众数均为2N=46。常规检查发现D组缺少1条染色体,多1条似C组大小的亚中着丝粒染色体,经G带核型分析及C带镜下观察证实D组第13号染色体和D组21号染色体罗伯逊易位而产生具有双着丝粒的新的染色体,确立患儿的核型为46,XY,-13,+t(13;21)(13qter→13p11∷21p11→21qtet),见附图。依法检查患儿父母的外周血染色体,均为正常核型。
Children male, 5 months old, hospital number 50853. 2 days due to cough, fever 5 hours on June 8, 1985 to “bronchial pneumonia” admitted to hospital. Children in the second child, 34 weeks pregnant preterm children. Parents of good health, the father of 28 years old, no history of exposure to harmful substances; mother 23 years old, working in the feather products factory since 1980, chemical paint exposure history, the pregnancy process did not suffer from acute infectious diseases. The first child born in September 1983, 32 weeks pregnant, premature delivery, for the baby girl, weighing 1.650 grams, raising more than 20 days due to “pneumonia”, “congenital heart disease” treatment died. There were no similar patients in both parents’ families. Physical examination: moderate nutrition, dull expression, slow response. Low nose bridge, wide interocular space, low ear, high tip of the palatal arch, pillow after the flat, occasional mouth tongue phenomenon. Both lungs have wet rales. Heart did not smell and noise. Extremities bones freely, without deformity. X-ray examination: increased thickening of the two lungs, and a little bit of fuzzy shadow, heart shadow and two diaphragms without special. Dermatography: Left and right hand atd angle of 75 °, the left hand for the bridge hands (mutation I type), 10 means are scaffolds. Chromosome test results: children with peripheral blood lymphocyte chromosome 72 hours, counting 50 cells microscopy, chromosome number are 2N = 46. Routine examination revealed that there was a lack of one chromosome and one more C-like submetacentric centromere in group D. The G-chromosome karyotype and C-microscopic examination confirmed that chromosome 13 in group D and chromosome 21 in group D Robertson translocation to produce a new chromosome with dicentric, children established karyotype 46, XY, -13, + t (13; 21) (13qter → 13p11 :: 21p11 → 21qtet), see the attached figure. According to the law check the parents of children with peripheral chromosomal, are normal karyotype.