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通过比较基因组杂交在一名患有绒毛膜血管瘤和肝血管瘤的死产婴儿中检测到的核型变化。

Karyotypic changes detected by comparative genomic hybridization in a stillborn infant with chorioangioma and liver hemangioma.

作者信息

Miliaras Dimosthenis, Conroy Jeffrey, Pervana Stavroula, Meditskou Soultana, McQuaid Devin, Nowak Norma

机构信息

Laboratory of Histology, Embryology & Anthropology, Medical School, Aristotle University of Thessaloniki, Greece.

出版信息

Birth Defects Res A Clin Mol Teratol. 2007 Mar;79(3):236-41. doi: 10.1002/bdra.20332.

Abstract

BACKGROUND

Placental hemangioma (chorioangioma) and congenital hemangioma are relatively common tumors, which on rare occasions may occur together. Very little is known about the pathogenetic mechanisms underlying these lesions.

CASE

Herein we describe a rare case of a stillborn infant with chorioangioma, placental mesenchymal dysplasia, and liver cavernous hemangioma. In addition, we present the findings of the karyotype analysis of these lesions, which was done with the bacterial artificial chromosome arrays using the comparative genomic hybridization method. The chromosomal abnormalities that we found were deletions at 2q13 and 7p21.1 and were common to both placental and liver lesions.

CONCLUSIONS

None of the identified chromosomal aberrations have been previously associated with chorioangiomas or hemangiomas. Important genes that lie in these DNA regions may be implicated in the pathogenesis of congenital hemangiomas and mesenchymal dysplasia.

摘要

背景

胎盘血管瘤(绒毛膜血管瘤)和先天性血管瘤是相对常见的肿瘤,极少数情况下可能同时发生。关于这些病变的发病机制知之甚少。

病例

在此,我们描述了一例死产婴儿的罕见病例,该婴儿患有绒毛膜血管瘤、胎盘间质性发育异常和肝海绵状血管瘤。此外,我们展示了使用比较基因组杂交方法通过细菌人工染色体阵列对这些病变进行核型分析的结果。我们发现的染色体异常是2q13和7p21.1处的缺失,这在胎盘和肝脏病变中都很常见。

结论

先前已确定的染色体畸变均与绒毛膜血管瘤或血管瘤无关。位于这些DNA区域的重要基因可能与先天性血管瘤和间质性发育异常的发病机制有关。

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