Varela M, Shapira E, Hyman D B
Human Genetics Program, Tulane Medical Center, New Orleans, LA 70112.
Am J Med Genet. 1991 Jun 15;39(4):411-2. doi: 10.1002/ajmg.1320390409.
A woman with Ullrich-Turner syndrome but with normal secondary sex characteristics became pregnant on two occasions (ages 23 and 24). She had a 45,X karyotype in 100/100 lymphocytes and 50/50 skin fibroblasts. The first pregnancy ended in a miscarriage at 2 months of gestation. In the second pregnancy cultured amniocytes showed a 46,X,del(X)(p21) karyotype. This pregnancy resulted in an apparently normal girl. Biopsies of the mother's ovaries were obtained at the time of cesarean section. Grossly the ovaries appeared normal, and histologically the number of primordial follicles appeared normal. In the right ovary, 5/100 cells were 46,X,del(X)(p21), while all 100 cells in the left ovary were 45,X.
一名患有乌尔里希-特纳综合征但第二性征正常的女性两次怀孕（分别在23岁和24岁）。她的100个淋巴细胞和50个皮肤成纤维细胞的核型均为45,X。第一次怀孕在妊娠2个月时流产。第二次怀孕时，培养的羊膜细胞显示核型为46,X,del(X)(p21)。此次怀孕产下一名外观正常的女孩。剖宫产时获取了母亲卵巢的活检样本。大体上卵巢外观正常，组织学检查显示原始卵泡数量正常。右侧卵巢中，100个细胞中有5个为46,X,del(X)(p21)，而左侧卵巢的100个细胞均为45,X。
