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13号染色体长臂部分三体征,国外有较详细报道,国内未见报告,现将我们在咨询中发现的一例13P部分三体患儿报告如下: 病例摘要患儿,男,1岁半,足月分娩,出生体重3000g,现体重8500g,身长74cm,头围45cm,智力低,不会说话,好动,不会走路,头发稀少,呈棕黄色,前额略窄,人中长深,嘴阔,腭弓高,耳略大壳厚,跟球略突出,眼距宽、四肢、双手,掌纹及睾丸等未见异常。平时易患感冒、肺炎。患儿双亲年龄均为32岁。
Chromosome 13 on the long arm of the trisomy, a more detailed report of foreign countries, there is no domestic report, we now found in the consultation of a 13P part of the trisomy in children are as follows: Case Summary Children, male, 1 year and a half, foot Month childbirth, birth weight 3000g, body weight 8500g, length 74cm, head circumference 45cm, low intelligence, can not speak, restless, do not walk, scarce hair, brown, slightly darker forehead, , Palatal arch height, slightly larger shell thick ears, with the ball slightly prominent, wide eyes, limbs, hands, palmprint and testis were normal. Usually prone to cold, pneumonia. Children with parents were 32 years of age.