Case report: A case report and literature review of complete trisomy 9
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Published:2023-08-31
Issue:
Volume:14
Page:
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ISSN:1664-8021
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Container-title:Frontiers in Genetics
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language:
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Short-container-title:Front. Genet.
Author:
Xu Chenxia,Li Miaoyuan,Peng Jianming,Zhang Yanfang,Li Haijun,Zheng Guobing,Wang Degang
Abstract
Complete trisomy 9 is a rare and lethal chromosomal anomaly characterized by multisystem dysmorphism and central nervous system (CNS) malformations. This study presents a case of complete trisomy 9 with an unusual phenotypic association and investigates the genetic pathways involved in this chromosomal abnormality. Trisomy 9 leads to a wide range of organ abnormalities, and this research contributes to a better understanding of the phenotype associated with this rare aneuploidy. The literature on the phenotypes of fetuses with various systems affected by complete trisomy 9 was reviewed and summarized. Correct diagnosis and appropriate counseling based on the characteristics of previous reports of fetuses with trisomy 9 is essential in maternity care and clinical management. To provide guidance and help for clinical diagnosis, this study aimed to explore the clinical and genetic characteristics of trisomy 9 syndrome to improve clinicians’ understanding of the disease.
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
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