28例原发性闭经患者细胞遗传学研究

28例原发闭经患者经GTG核型分析,其中46,XX者10例,45,XO者9例,45,XO/46,XY者2例,45,X/47,XYY者1例,46,X,i(Xq)者3例,45,X/46,X,i(Xq)者1例,45,X/46,XXr者1例及46,XY睾丸女性化1例。染色体数目及结构异常皆属于Turner综合征,她们大多数有体矮,外阴幼稚型,第二性征发育差等体征。一例45,X/47,XYY已剖腹探查具两种性服亦属两性畸形。一例环状染色体为Xp~-,部分枝型分析为45,X/46,X,r(X)(p~(11)q~(28))。此外,本文对X染色体异常导致原闭及其对临床表型影响作了讨论。

X Chromosome Abnormalities in Primary Amenorrhea:Cytogenetic Study on 28 Cases ofPrimary Amenorrhea

Twenty-eight cases with clinical signs of primary amenorrhea were investigated.35.71 per cent of the patients had normal karyotype 46,XX and the rest of them had abnormal sex chromosome.The most common abnormality was monosomy of chromosome X,45,X,and the next was 46,X,i(Xq).In four patients an isochromosome of the long arm of chromosome X was found.One of these patients was a mosaic with a 45,X cell line,i,e.45,X/46,X,i(Xq).Besides,45,X/46,XY mosaicism was seen in two patients,and 45,X/47,XYY and 45,X/46,XXr in two other patients respectively.All the above patients were similar in having the cell line of monosomy of chromosome X or the deletion of the short arm of the chromosome X.Thus the patients were put into the group of turner's syndrome.One patient had male sex chromosome with the clinical feature of testicular feminization.