CAJ | 학술논문

1例身材矮小、原发性闭经就诊的女性患者进行染色体核型分析为45X核型，用微阵列比较基因组杂交技术扫描基因发现1p36缺如，并在多个染色体上基因有异常，临床主要表现为身材矮小、女性第二性征缺如、原发闭经、直肠扩张、内生殖器缺如，伴有甲状腺功能减退，智力一般等特征。容易被临床某一种表现而误诊，需要高度关注。
1례신재왜소、원발성폐경취진적녀성환자진행염색체핵형분석위45X핵형，용미진렬비교기인조잡교기술소묘기인발현1p36결여，병재다개염색체상기인유이상，림상주요표현위신재왜소、녀성제이성정결여、원발폐경、직장확장、내생식기결여，반유갑상선공능감퇴，지력일반등특정。용역피림상모일충표현이오진，수요고도관주。
A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.