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患儿男,13月,因双侧隐睾,右侧腹股沟疝而就诊。第1胎,足月顺产,自幼头大身材高,头发稀疏,表情呆板,反应迟钝,左眼内斜,鼻梁扁平,耳位低,左耳外缘缺损,小于右耳,双手为通贯掌。患儿心肺正常,身高92cm,头围为51.5cm。脑B超检查侧脑室及第三脑室重度扩张,血尿粘多糖(+),智商测定QR为79分。细胞遗传学检查:常规1640培养和脆性TC199培养,G、C显带及染色体随体联合观察,共计数80个细胞,发现患儿染色体为46,XYqs,其中18个细胞核型具染色体长臂末端与D组或G组染色体发生随
Children male, 13 months, due to bilateral cryptorchidism, right inguinal hernia and treatment. The first child, term full-term, since childhood, big body tall, sparse hair, dull, unresponsive, left eye oblique, flat nose, low ear, left ear rim defect, less than the right ear, Palm. Children with normal heart and lung, height 92cm, head circumference of 51.5cm. Brain B ultrasound examination of the lateral ventricle and the third ventricle severe expansion, hematuria mucopolysaccharide (+), IQ measured 79 points. Cytogenetics examination: conventional 1640 culture and brittle TC199 culture, G, C banding and chromosomal combination observation, a total of 80 cells were found in children with chromosome 46, XYqs, of which 18 nuclear karyotype with chromosome long arm ends Chromosomes occur with D or G groups