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1.性染色体与常染色体异常性染色体异常与常染色体异常相比,多少有些不同。性染色体异常的表现型比常染色体少,在小儿期确定诊断极为困难。然而Turner氏综合征可在小儿期出现特异的体征,但亦有例外。Klinef-elter综合征虽有睾丸异常,XYY个体有身长及举动的特异,XXX女性有若干精神发育迟滞及特定的脏器变异,但其表现型多接近正常。XXXY、XXXX,XXXXY,XXXXX等性染色体随数目之增加,可见有外表畸形及精神发育迟滞等障碍。其次常染色体异常的单体(monosomy)皆可导致死亡,性染色体异常无X染色体,只有Y染色体的单体生存困难。X染色体的单体多数流产,
1. sex chromosomes and autosomal abnormalities Chromosome abnormalities and autosomal abnormalities compared to the number of somewhat different. Sexual chromosomal abnormalities less than the autosomal phenotype determination in childhood diagnosis is extremely difficult. However, Turner’s syndrome can show specific signs in infancy, but there are exceptions. Although Klinef-elter syndrome testicular abnormalities, XYY individuals have length and behavior specific, XXX women have a number of mental retardation and specific organ changes, but its phenotype more near normal. XXXY, XXXX, XXXXY, XXXXX and other sex chromosomes increased with the number of visible external deformities and mental retardation and other obstacles. Second, autosomal abnormalities monosomy can cause death, sex chromosome abnormalities without X chromosome, only the Y chromosome monomer survival difficulties. X chromosome majority of the abortion,