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。

Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.

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脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。

Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

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结果：146例外周血染色体异常核型中常染色体数目异常占4.8％（7/146）； 常染色体结构异常占29.5％（43/146）；

Results: In 146 cases of chromosomes aberrance, the rate of abnormal eu-chromosome number and abnormal euchromosome structure was 4. 8% (7/146) and 29. 5% (43/146).

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