Ashton F, O'Connor R, Love J M, Doherty E, Aftimos S, George A, Love D R
Diagnostic Genetics, Lab Plus, Auckland City Hospital, School of Biological Sciences, University of Auckland, Auckland, New Zealand.
Genet Mol Res. 2010 Sep 14;9(3):1815-23. doi: 10.4238/vol9-3gmr896.
Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and high-density microarrays identified the X-chromosome breakpoint as centromeric of the NR0B1 gene and its control elements. Cytogenetics and array technology complemented each other in characterizing the translocation event and the extent of the dosage-sensitive sex reversal critical region on the derivative Y-chromosome. The implications of this analysis also lie in genetic counseling that highlight the likely de novo nature of a paternal meiotic event.
由于Xp21剂量敏感性性别反转位点的重复导致的性反转会使XY女性出现性腺发育不全。纯Xp二体（无同时发生的遗传物质丢失）可通过易位或中间重复发生。本文报道的病例是罕见的t(Xp;Yp)形式。传统临床细胞遗传学技术、微卫星分析和高密度微阵列的结合确定X染色体断点位于NR0B1基因及其调控元件的着丝粒处。细胞遗传学和阵列技术在表征易位事件以及衍生Y染色体上剂量敏感性性别反转关键区域的范围方面相互补充。该分析的意义还在于遗传咨询，突出了父本减数分裂事件可能的从头发生性质。
