Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
克氏症仍是最常见的染色体疾病，染色体平衡易位核型占常染色体异常核型比例最大。
Objective: To explore the practical value of Down's screening and antenatal diagnosis in preventing and decreasing chromosomal disease and congenital birth defect.
目的：探讨唐氏筛查及产前诊断在预防和减少染色体病及先天缺陷儿出生的实用价值。
Caused by the abnormality of chromosome 21, Down syndrome is the most common chromosomal disease as well as one of the most frequent known genetic causes of mental retardation.
唐氏综合症由人体21号染色体病变引起。它是最常见的染色体疾病，也是最主要的导致智力落后的基因病变。
Chromosomal abnormalities are thought to account for 10 to 20 percent of cases and duplication of chromosome 15q11-13 is the only recurrent aberration so far linked to the disease.
有人认为，染色体异常可能会占孤独症病例的百分之十到二十，而15q11-13区段的染色体重复，是目前唯一所知的能和孤独症相关联的异常。
NT thickening is related to chromosomal syndromes closely, still to congenital heart disease, fetal abnormalities, anemia, infection factors.
NT增厚除了与染色体病密切相关外，还与先天性心脏病、胎儿畸形、贫血、感染等因素相关。
The more closely spaced are the markers on the chromosomal segment containing the disease locus, the accurately can one localize the disease gene.
在包含致病基因的一段染色体上，遗传标记分布越密集，则致病基因定位越精确。
Tuberous sclerosis (TS) is an exceptional chromosomal inherited disease, This disease was mainly diagnosed by three clinical appearances: epilepsy, intellectual disturbance, and sebaceous adenoma.
结节性硬化是一种常染色体显性遗传性疾病。过去临床上主要靠病人有癫痫、智力低下和皮脂腺瘤三大体征来诊断。
Conclusion The 10 X-chromosomal STRs loci are appropriate for individual identification, for paternity testing involving a female child, and for studies on related disease.
结论此10个X染色体sTR位点有较高的个体识别率，在个体识别和女孩亲权鉴定中有较高应用价值，对疾病相关研究有重要意义。
Conclusion The 10 X-chromosomal STRs loci are appropriate for individual identification, for paternity testing involving a female child, and for studies on related disease.
结论此10个X染色体sTR位点有较高的个体识别率，在个体识别和女孩亲权鉴定中有较高应用价值，对疾病相关研究有重要意义。
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