2型马赛克三体的广泛临床谱：突尼斯两例新病例报告。

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-07-24 DOI:10.1080/15513815.2025.2534033

Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Ridha M'rad, Nadia Boujelben, Aida Masmoudi, Soumeya Siala Gaigi

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引用次数: 0

摘要

背景：马赛克2型三体是检测两个或多个细胞与额外的2号染色体分布在两个或多个独立的培养。方法：我们报告了2例新的在羊膜穿刺术中检测到的具有以前未报道的临床特征的马赛克2三体，我们回顾了这种罕见的非整倍体的临床表现的文献。结果：羊水培养细胞遗传学分析显示2号嵌合三体(47，XY,+2[9]；（47，XY,+2[13]）（32%）；46,XY[21])（38%）在两个独立的烧瓶培养中。我们的第二个病例提出了一个新的临床发现，以前没有描述的马赛克三体2，这是枕部裂脑畸形与脑积水。结论：在羊膜穿刺术中发现了2例新的嵌合2型三体，其临床特征未见报道。产前诊断染色体镶嵌三体2继续创造一个困境，遗传咨询，因为有限的数据和可变的结果。

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Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.

Background: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.

Methods: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy.

Results: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures. Our second case presented a new clinical finding non described previously in mosaic trisomy 2 which is occipital schizencephaly associated with hydrocephalus.

Conclusion: Two new cases of mosaic trisomy 2 were detected at amniocentesis with previously unreported clinical features. Prenatal diagnosis of chromosomal mosaic trisomy 2 continues to create a dilemma in genetic counseling because of limited data and variable outcomes.

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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.