Muasher S, Baramki T A, Diggs E S
Obstet Gynecol. 1980 Dec;56(6):752-6.
Two females are described, mother and daughter, who had the Turner phenotype and spontaneous sexual development. The mother is short and had ovulatory menstrual cycles, normal breast development, X-chromatin negative buccal smear, 45,X chromosomal pattern in her peripheral blood lymphocytes, and 45,X/46,X,r(X) mosaicism in her skin, with the majority of the cells (85%) showing X monosomy. She had a successful uncomplicated pregnancy at the age of 25 years. The daughter is short and had spontaneous sexual development, including menstruation at the age of 15 years. Her buccal smear was X-chromatin negative and karyotypes from peripheral blood lymphocytes and skin fibroblasts showed a 45,X chromosome constitution. Her menstrual cycles are irregular and, most probably, anovulatory. She has a horseshoe kidney. Six women with a 45, X chromosome complement are known to have delivered normal infants with no chromosomal abnormality. Five children with 45,X mosaicism have been born to mothers with 45,X mosaicism; all had a 46,XX cell line as well. This is the first report of a 45,X female born to a mother with mosaicism composed of 2 abnormal cell lines, 1 with X monosomy and 1 with a ring X chromosome.
本文描述了一对母女，她们具有特纳综合征的表型且有自发性性发育。母亲身材矮小，有排卵性月经周期，乳房发育正常，口腔涂片X染色质阴性，外周血淋巴细胞的染色体核型为45,X，皮肤存在45,X/46,X,r(X)嵌合体，大多数细胞（85%）显示X单体型。她在25岁时成功孕育了一个正常的胎儿。女儿身材矮小，有自发性性发育，包括15岁时月经初潮。她的口腔涂片X染色质阴性，外周血淋巴细胞和皮肤成纤维细胞的核型显示为45,X染色体组成。她的月经周期不规律，很可能无排卵。她有马蹄肾。已知6名具有45,X染色体组成的女性分娩出了无染色体异常的正常婴儿。5名45,X嵌合体儿童的母亲也为45,X嵌合体；她们也都有46,XX细胞系。本文首次报道了一名45,X女性，其母亲为具有两种异常细胞系的嵌合体，一种为X单体型，另一种为环状X染色体。
