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首页> 外文期刊>Case Reports in Genetics >Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
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Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

机译：染色体区域7p22.1p21.1和15q24.1的两个同时从头间质重复复制的产前鉴定和分子表征

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The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. Cytogenetic analysis of cultured amniocytes by conventional chromosome analysis, comparative genomic hybridization, and fluorescence in situ hybridization revealed two interstitial duplications of the chromosomal regions 7p22.1p21.1 and 15q24.1, leading to partial trisomy of 7p and 15q and karyotype 46,XY,dup(7)(p22.1-p21.1),dup (15)(q24.1). Parental chromosomal analysis did not identify any heritable changes, suggesting both mutations were de novo in nature. Postnatal examination of the neonate was significant for low set ears, thick helices, flat nasal bridge, ankyloglossia, and aberrant head shape and size concerning for craniosynostosis. Postnatal MRI was consistent with Dandy-Walker variant showing hypogenesis of the inferior cerebellar vermis. To our knowledge, there are no prenatal or postnatal reports of comparable duplications involving these two regions simultaneously. Continued observation of the neonate may reveal further phenotypic consequences of these two simultaneous de novo interstitial duplications.
机译：同时发生从头染色体畸变的情况极为罕见。在这里，我们描述了7p和15q染色体的两个以前从未报道过的同时从头间质重复。羊膜穿刺术已完成为一名健康的gravida 4 para 3妇女，因为她的孕妇年龄高，并且同时出现了部分Vermian发育不全，脉络丛囊肿和增生的鼻骨的超声检查结果。通过常规染色体分析，比较基因组杂交和荧光原位杂交对培养的羊膜细胞进行细胞遗传学分析，发现染色体区域7p22.1p21.1和15q24.1的两个间隙重复，导致7p和15q的部分三体性和核型46，XY ，dup（7）（p22.1-p21.1），dup（15）（q24.1）。父母的染色体分析未发现任何可遗传的变化，表明这两个突变本质上都是从头开始的。新生儿的产后检查对于低位耳朵，浓密的螺旋，鼻梁扁平，强直觉缺失以及与颅骨前突有关的异常头部形状和大小非常重要。产后MRI与Dandy-Walker变体一致，显示下小脑ver部发育不全。据我们所知，没有产前或产后报告同时涉及这两个区域的可比重复。继续观察新生儿可能会发现这两个同时发生的从头组织间重复产生进一步的表型后果。

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