Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation

I. Wen Lee, Yen-Yin Chou, Keng-Fu Hsu, Pei Yi Chou, Ming Chen, Pao-Lin Kuo, Shio Jean Lin

研究成果: Article

3 引文 斯高帕斯(Scopus)

摘要

Monosomy 9p syndrome, also known as Alfi syndrome, has been described as a contiguous syndrome characterized by mental retardation, developmental delay, and facial dysmorphisms. Males with monosomy 9p often express variable degrees of feminization, although the genitalia of females will be normal. In the present report, we describe a case of ambiguous genitalia and intra-abdominal testicular development, with a derivative chromosome 9 arising from a translocation between 9p23 and Yq heterochromatin. Pathologic examination of the testes showed germ cell hypoplasia of the seminiferous tubules. fluorescence in situ hybridization, spectral karyotyping, and array comparative genomic hybridization were used to characterize the genetic changes.

原文English
頁(從 - 到)1213-1216
頁數4
期刊Urology
77
發行號5
DOIs
出版狀態Published - 2011 五月 1

    指紋

All Science Journal Classification (ASJC) codes

  • Urology

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