A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
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DOI：
10.1016/j.ejmg.2011.09.001
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发表时间：
2012-01-01
影响因子：
1.9
通讯作者：
Strisciuglio, P.
中科院分区：
文献类型：
--
作者：
Concolino, D.;Iembo, M. A.;Strisciuglio, P.
我们报告了一例新的 8q 间质重复病例，患者患有畸形特征、脐疝、隐睾、身材矮小、先天性心脏缺陷和轻度智力低下 (MR)。高分辨率 QFQ 带的染色体分析显示 46,XY,8q+，这被解释为 8 号染色体远端长臂的部分重复 (q22 -> qter)。使用多个 DNA 探针的荧光原位杂交 (FISH) 分析和阵列 CGH（比较基因组杂交）实验进一步表征了这种染色体畸变，该实验证明了从头直接复制 (8)(q22.2-q24.3)。我们将此病例与文献报道的其他部分三体性 8q 患者进行了比较，并强调了 8q22-8q24 重复综合征的常见临床特征。由 Elsevier Masson SAS 出版。
We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY,8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 -> qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome. Published by Elsevier Masson SAS.