The First Case of a Patient with De Novo Partial Distal 16q Tetrasomy and a Data's Review
The First Case of a Patient with De Novo Partial Distal 16q Tetrasomy and a Data's Review
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DOI：
10.1002/ajmg.a.36686
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发表时间：
2014-10-01
影响因子：
2
通讯作者：
Krajewska-Walasek, Malgorzata
中科院分区：
文献类型：
--
作者：
Kucharczyk, Marzena;Kochanski, Andrzej;Krajewska-Walasek, Malgorzata
我们报告了一个严重的精神残疾，许多畸形的功能，先天性畸形的患者造成的复杂的基因组重排16q24.1-q24.3涉及从头重复-三倍体模式。据我们所知，这是第一个报告的病人提出了这种畸变的远端染色体16 q。我们认为，我们的病人的临床表型的结果，过量的基因映射到该地区的重复/三倍（五个基因：FOXF 1，FOXC 2，ANKRD 11，SPG 7和FANCA似乎发挥了特殊的作用）。详细的分子表征和文件中观察到的复杂的基因组重排的先证者和临床表现是重要的准确的基因型-表型相关性的遗传咨询。描绘染色体16 q末端区域的基因图谱将提供对这种染色体16q24.1-q24.3连续基因重复-三倍体综合征的深入了解。(C)2014 Wiley Periodicals，Inc.
We report on a patient with severe psychomotor disability, numerous dysmorphic features, and congenital malformations resulting from a complex genomic rearrangement on 16q24.1-q24.3 involving a de novo duplication-triplication pattern. To the best of our knowledge, this is the first reported patient presenting with this aberration within the distal chromosome 16q. We suggest that the clinical phenotype of our patient results from over-dosage of genes mapped to the region with duplication/triplication (five genes: FOXF1, FOXC2, ANKRD11, SPG7 and FANCA seem to play a peculiar role). Detailed molecular characterization and documentation of the complex genomic rearrangement observed in the proband and of the clinical presentation are important for accurate genotype-phenotype correlations in genetic counseling. Delineation of the gene map for the terminal region of chromosome 16q will provide insight into this chromosome 16q24.1-q24.3 contiguous gene duplication-triplication syndrome. (C) 2014 Wiley Periodicals, Inc.