Schinzel A A, Robinson W P, Binkert F, Torresani T, Werder E A
Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
Hum Genet. 1993 Sep;92(2):175-8. doi: 10.1007/BF00219687.
A 13 1/2 year-old girl with short stature and very few Turner stigmata revealed 45,X/46,XX mosaicism with 90%-100% 46,XX cells in three sequential blood lymphocyte cultures. Molecular investigation of the parental origin of her X chromosomes revealed homozygosity for paternal X markers and an absence of maternal markers. Luteinizing hormone response to growth hormone releasing hormone was increased. Impaired gonadal function and shortness of stature in this case could be a result of the mild mosaicism with a 45,X cell line and/or is a consequence of the paternal-only origin of her X chromosomes.
一名13岁半的身材矮小且特纳综合征体征极少的女孩，在连续三次血液淋巴细胞培养中显示出45,X/46,XX嵌合体，其中46,XX细胞占90%-100%。对其X染色体亲本来源的分子研究显示，父系X标记纯合，母系标记缺失。促黄体生成素对生长激素释放激素的反应增强。该病例中性腺功能受损和身材矮小可能是由于存在45,X细胞系的轻度嵌合体和/或其X染色体仅来自父系的结果。
