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首页> 外文期刊>American journal of medical genetics, Part A >Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
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Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

机译：用SNP芯片鉴定四头肌15q25.2→qter，发现患有多种异常（包括复杂的心血管畸形）的患者

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We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed a heart defect, pleural effusion, clubbed feet, and absent right kidney. Clinical cytogenetic analysis of amniocytes identified a marker chromosome present in 10 out of 15 cells analyzed. Clinical evaluation of the neonate revealed distinct facial features, complex heart defects, solitary left kidney, and arachnodactyly. Chromosome analysis of lymphocytes demonstrated an abnormal male karyotype with a marker chromosome present in all 24 cells examined. To identify the marker chromosome, SNP microarray analysis was performed which detected the presence of a two copy gain of 17.7Mb of DNA from the distal long arm of chromosome 15 (15q25.2-qter). FISH analysis using a probe specific to the 15q26.3 region showed one signal on each normal 15q and two signals, one on each arm of the marker chromosome resulting in four copies. Distal tetrasomy 15q is rare. Only 11 cases have been described in the literature, all due to a supernumerary analphoid marker chromosome consisting of an inverted duplication of the distal long arm of chromosome 15. We report on a unique patient with tetrasomy 15q with complex cardiovascular malformation (CVM) involving progressive diffuse pulmonary vein stenosis (PVS). We propose overexpression of three genes, ADAMTSL3, MESP1, and MESP2 as a potential mechanism for cardiac and vessel malformations associated with tetrasomy 15q. Finally, we believe cardiac defects with this genetic syndrome are a poor prognostic finding associated with high mortality.
机译：我们报告了一名男性婴儿，其产前诊断为多标记染色体和多个先天性异常的镶嵌。产前超声检查显示心脏缺损，胸腔积液，足趾龟裂和右肾缺失。羊细胞的临床细胞遗传学分析确定了在15个分析细胞中有10个存在的标记染色体。新生儿的临床评估显示出明显的面部特征，复杂的心脏缺陷，孤立的左肾和蛛网膜下腔。淋巴细胞的染色体分析显示出异常的男性核型，在所有检查的24个细胞中均存在标记染色体。为了鉴定标记染色体，进行了SNP微阵列分析，检测到来自15号染色体远端长臂（15q25.2-qter）的17.7Mb DNA的两个拷贝增益的存在。使用特异性针对15q26.3区域的探针进行的FISH分析显示，每个正常15q处有一个信号，而标记染色体的每个臂上有两个信号，导致四个拷贝。远端四体15q罕见。文献中仅描述了11例病例，所有病例均归因于Analphoid标志物染色体，该染色体由15号染色体的远侧长臂的反向重复组成。我们报道了一位独特的15q四体性患者，伴有复杂的心血管畸形（CVM）弥漫性肺静脉狭窄（PVS）。我们建议过度表达三个基因，ADAMTSL3，MESP1和MESP2作为与四体性15q相关的心脏和血管畸形的潜在机制。最后，我们认为具有这种遗传综合征的心脏缺陷是与高死亡率相关的不良预后发现。

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