10q24.32微重复与手足裂形畸形（SHFM）产前诊断1例

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI:10.1080/15513815.2024.2440465

Marco Fabiani, Katia Margiotti, Francesco Libotte, Maria Luce Genovesi, Antonella Cima, Alvaro Mesoraca, Claudio Giorlandino

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引用次数: 0

摘要

手足裂畸形（SHFM）是一种罕见的先天性疾病，通常与基因复制有关，破坏了正常的肢体发育。病例报告：在这里，我们提出了一个新的病例SHFM与10q24.32微重复，通过产前诊断确定。这种微复制包括肢体发育所必需的基因，说明了这种畸形背后复杂的遗传机制。胎儿表现出双手和双脚的严重畸形，与携带相同微复制的母亲观察到的轻度表型相反。结论：本病例加深了我们对SHFM遗传基础的认识，强调了综合遗传分析在产前诊断中的重要作用。

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A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

Introduction: Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Case report: Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis. This microduplication includes genes essential for limb development, illustrating the complex genetic mechanisms underlying this malformation. The fetus exhibited severe malformations in both hands and feet, in contrast to the mild phenotype observed in the mother, who carries the same microduplication. Conclusion: This case enhances our understanding of the genetic basis of SHFM and highlights the critical role of comprehensive genetic analysis in prenatal diagnostics.

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.