目的应用高分辨微阵列比较基因组杂交技术（array—comparative genomic hybridization，aCGH）对55例不明原阂的智力低下或发育迟缓（mental retardation or developmental delay，MR／DD）患儿进行拷贝数变异（copy number variations...目的应用高分辨微阵列比较基因组杂交技术（array—comparative genomic hybridization，aCGH）对55例不明原阂的智力低下或发育迟缓（mental retardation or developmental delay，MR／DD）患儿进行拷贝数变异（copy number variations，CNVs）检测，寻求与遗传学相关的致病因素，探讨aCGH对不明原因MR／DD患儿可能的分子病因诊断的作用。方法收集2013年6月-2013年12月到本院儿科初步诊断为MR／DD的患儿55例，应用25～50K CytoScanHD芯片检测全基因组CNVs，联合生物信息学分析手段分析致病性CNVs。结果在55例不明原因MR／DD患者中共检测到21例存在罕见CNVs。通过比对数据库，21处CNVs确认为致病性CNVs。19例患者携带与MR／DD相关的CNVs。2例为已知综合征患者，其中1例为Turner综合征，1例为1p36缺失综合征。结论基因组CNVs相关的微缺失或微重复是不明原因MR／DD的病因之一，这些片段均无法被常规染色体G带检查所识别。aCGH可以提高对不明原因MR／DD患儿的分子病因诊断水平，对深入研究MR／DD病因机制有重要意义，为患儿预后和家庭再发风险评估提供指导。展开更多
Background： Wolf-Hirschhorn syndrome （WHS） is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the featu...Background： Wolf-Hirschhorn syndrome （WHS） is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification （MLPA） and array comparative genomic hybridization （array CGH）. Methods： Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. Results： All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. Conclusions： The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.展开更多
文摘目的应用高分辨微阵列比较基因组杂交技术（array—comparative genomic hybridization，aCGH）对55例不明原阂的智力低下或发育迟缓（mental retardation or developmental delay，MR／DD）患儿进行拷贝数变异（copy number variations，CNVs）检测，寻求与遗传学相关的致病因素，探讨aCGH对不明原因MR／DD患儿可能的分子病因诊断的作用。方法收集2013年6月-2013年12月到本院儿科初步诊断为MR／DD的患儿55例，应用25～50K CytoScanHD芯片检测全基因组CNVs，联合生物信息学分析手段分析致病性CNVs。结果在55例不明原因MR／DD患者中共检测到21例存在罕见CNVs。通过比对数据库，21处CNVs确认为致病性CNVs。19例患者携带与MR／DD相关的CNVs。2例为已知综合征患者，其中1例为Turner综合征，1例为1p36缺失综合征。结论基因组CNVs相关的微缺失或微重复是不明原因MR／DD的病因之一，这些片段均无法被常规染色体G带检查所识别。aCGH可以提高对不明原因MR／DD患儿的分子病因诊断水平，对深入研究MR／DD病因机制有重要意义，为患儿预后和家庭再发风险评估提供指导。
文摘Background： Wolf-Hirschhorn syndrome （WHS） is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification （MLPA） and array comparative genomic hybridization （array CGH）. Methods： Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. Results： All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. Conclusions： The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.
