Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-10-04 DOI:10.1002/ccr3.71093

Alassane Baneye Maiga, Oumar Samassekou, Cheick Oumar Sidibé, Oumou Traoré, Belco Maiga, Mahamadou Traoré, Cheick Oumar Guinto, Guida Landouré

引用次数: 0

Abstract

This case report details the first confirmed diagnosis of Trisomy 13 (Patau syndrome) in Mali using Fluorescence In Situ Hybridization (FISH). The male newborn presented with multiple congenital anomalies, including polydactyly and micrognathia. The diagnosis expands the understanding of Trisomy 13 in Africa, highlighting the importance of genetic testing in resource-limited settings.

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荧光原位杂交在马里新生儿13三体诊断中的应用

本病例报告详细介绍了马里首次使用荧光原位杂交（FISH）确诊的13三体（帕陶综合征）。男性新生儿表现出多种先天性异常，包括多指畸形和小颌畸形。这一诊断扩大了对非洲13型三体的了解，突出了在资源有限的环境中进行基因检测的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).