Frydman M, Shabtai F, Barak Y, Halbrecht I, Elian E
J Med Genet. 1979 Jun;16(3):232-4. doi: 10.1136/jmg.16.3.232.
A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18/46,XY/47,XY,+18 complement.
本文报告了一名临床表现类似爱德华兹综合征的患者。头颅不对称、胸腰椎半椎体及一根额外肋骨为其异常特征。细胞遗传学研究显示存在三种不同细胞系共存,核型分别为45,XY,--18、46,XY及47,XY,+18。