...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Molecular cytogenetics >Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
【24h】

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH

机译：以阵列CGH为特征的两个从头开始的4q35-qter缺失的产前诊断

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

摘要

Background The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wide spectrum of clinical manifestations. The majority of reports of 4q- cases are associated with large deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with 4q- phenotype. Results Herein we report two prenatal cases of 4qter deletions which presented the first with no sonographic findings and the second with brain ventriculomegaly combined with oligohydramnios. Standard karyotyping demonstrated a deletion at band q35.1 of chromosome 4 in both cases. The application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. Conclusions We provide a review of the currently available literature on the prenatal diagnostic approach of 4q- syndrome and we compare our results with other published cases. Our data suggest that the identification and the precise molecular characterization of new cases with 4q- syndrome will contribute in elucidating the genetic spectrum of this disorder.
机译：背景技术4q-综合征是众所周知的遗传病，是由4号染色体长臂的部分末端或间质缺失引起的。这些缺失程度的巨大差异以及其他遗传重排的可能贡献，例如不平衡易位，导致广泛的临床表现。有关4q病例的大多数报道都与常规染色体分析所鉴定的大缺失有关。然而，诸如阵列比较基因组杂交（a-CGH）等新型分子技术的广泛临床应用提高了与4q表型相关的亚显微染色体畸变的检测率。结果本文报道了2例4qter缺失的产前病例，其中1例无超声检查，2例脑室肥大合并羊水过少。在两种情况下，标准的核型分析都证明在4号染色体的q35.1带缺失。 a-CGH的应用证实了诊断并提供了遗传缺陷的精确表征。结论我们提供了有关4q综合征产前诊断方法的现有文献的综述，并将我们的结果与其他已发表病例进行了比较。我们的数据表明，新病例4q-综合征的鉴定和精确的分子特征将有助于阐明该疾病的遗传谱。

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