一名继发性闭经患者的非嵌合等臂X染色体。
Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea.
作者信息
Ponzio G, Chiodo F, Messina M, Surico N, Libanori E, Folpini E, Porcelli A, Marchese C
出版信息
Clin Genet. 1987 Jul;32(1):20-3. doi: 10.1111/j.1399-0004.1987.tb03317.x.
Abstract
An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with different breakpoints is discussed.
摘要
在一名40岁继发性闭经女性患者的淋巴细胞和卵巢组织中发现了一条等臂双着丝粒X染色体idic(X)(pter----q26.1::q26.1----pter)。未观察到嵌合体现象。本文讨论了我们这个病例以及先前描述的具有不同断点的非嵌合idic(X)(q::q)病例的表型-核型相关性。
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