De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report
作者: Muna A. Al DhaibaniDiane Allingham-HawkinsAyman W. El-Hattab
作者单位: 1Tawam Hospital
2PreventionGenetics, LLC
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12881-017-0482-8
关键词: Chromosome 7q36Genomic rearrangementsChromosomal microarrayChromosomal disorders
英文摘要: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9 , both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36.1q36.2 triplication that is proximal to the 7q36.3 region. In addition to the clinical description, we discuss the genes located in the triplicated region.
原始语种摘要: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9 , both located in 7q36.3, is believed to play roles in the phenotypes associated with these rearrangements. In this report we describe a child with 7q36.1q36.2 triplication that is proximal to the 7q36.3 region. In addition to the clinical description, we discuss the genes located in the triplicated region.
全文获取路径: Springer  (合作)
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影响因子:2.536 (2012)

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关键词翻译
关键词翻译
  • developmental 试验性的
  • triplication 三重
  • congenital 先天的
  • genomic 染色体组的
  • region 地域
  • child 小孩
  • chromosome 染色体
  • delay 延时
  • triplicated 增至三倍的
  • addition 添加