Kaluzewski B, Pawlikowski T, Moruzgala T, Reterski Z, Bjanid O
J Genet Hum. 1977 Oct;25(3):195-203.
The case of a 24-year-old man with hypoplastic external genitalia, lack of the right scrotal testis and gynaecomastia has been described. In the intermitotic cells the cytogenetic investigations revealed the presence of the X body and the absence of the Y body. A 45,X/46,XX/46,X,mar/47,XX,mar karyotype could be established. On laparotomy a rudimentary ovary, uterus and vagina were detected on the right side of the abdominal cavity.
本文描述了一名24岁男性病例，其外生殖器发育不全，右侧阴囊内睾丸缺如，并伴有男性乳房发育。在间期细胞中，细胞遗传学检查显示存在X小体，而无Y小体。可确定其核型为45,X/46,XX/46,X,mar/47,XX,mar。剖腹探查发现腹腔右侧有一个发育不全的卵巢、子宫和阴道。
