• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Molecular cytogenetics >Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)×?2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
【24h】

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)×?2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

机译：MOS 45，XY，-9 [8] / 46，XY，R（9）[29] / 47，XY，XY，+ IDIC R（9）×2 [1] / 46，xy， IDIC R（9）[1] / 46，XY [1]女性呈现短地形

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. Re-karyotyping was performed using standard GTL-banding technique. Further cytogenetic study using standard metaphase fluorescent in situ hybridization (FISH) technique was applied to cultured lymphocytes from peripheral blood, hybridized using green control probe specific to 9q21 loci, and red DMRT1 probe specific to 9p24.3 loci. Cytogenetics and FISH analysis revealed mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)×?2[1]/46,XY,idic r(9)[1]/46,XY[1] and haploinsufficiency of DMRT1 gene in most cells. CGH array revealed a deletion around 1.25?Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)×?1] and three duplications around 13?Mb [9p24.3p22.3(1,477,660-14,506,754)×?3] near the breakage point that formed the ring chromosome 9. The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. More research is required to pinpoint the exact mechanism that underlies sex reversal caused by DMRT1 haploinsufficiency.
机译：46，XY性逆转综合征的特点是不间断的遗传和表型性爱，导致正常的外部女性生殖器，未开发的GONADS和Müllerian结构的存在，在46岁的XY个人中。据报道，染色体9pter像畸变，例如环染色体，导致46例，由于DMRT1基因位于9P24.3区域的DMRT1基因的参与，引起46例性感（DSD）。本研究呈现了一个12岁女性的独特案例，其中MOS 46，XY，（R）9 [31] / 45，XY，-9 [9]核型，呈现出智力残疾和矮小的身材，模仿特式综合征。使用标准GTL发布技术进行重新核型。使用标准中期荧光原位杂交（鱼）技术的进一步的细胞遗传学研究应用于外周血的培养淋巴细胞，使用特异于9Q21基因座的绿色对照探针杂交，以及特异于9p24.3基因座的红色DMRT1探针。细胞遗传学和鱼类分析显示MOS 45，XY，-9 [8] / 46，XY，R（9）[29] / 47，XY，XY，+ IDIC R（9）×2 [1] / 46，XY，IDIC大多数细胞中DMRT1基因的r（9）[1] / 46，XY [1]和单倍细程。 CGH阵列显示在9P24.3的MB左右的缺失[ARR 9P24.3（204,193-1,457,665）×1]和三个重复，约13？MB [9p24.3p22.3（1,477,660-14,506,754）×3]在形成环染色体的断裂点附近9.模拟变速器综合征的主题的临床介绍突出了细胞遗传学分析的重要性，以检测环染色体的可能性9.由于环染色体9结构中DMRT1基因的单速度，而导致的性逆转。曾经报道过少数案件，非常罕见。该发现还突出了DMRT1基因在性别测定和雄性分化中的重要性。需要更多的研究来确定由DMRT1臭氧水碎量引起的性逆转的确切机制。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号