Cargando…
Case report: A case report and literature review of complete trisomy 9
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 chromoso...
Autores principales: | Xu, Chenxia, Li, Miaoyuan, Peng, Jianming, Zhang, Yanfang, Li, Haijun, Zheng, Guobing, Wang, Degang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500842/ https://www.ncbi.nlm.nih.gov/pubmed/37719705 http://dx.doi.org/10.3389/fgene.2023.1241245 |
Ejemplares similares
-
Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature
por: Xu, Chenxia, et al.
Publicado: (2022) -
Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases
por: Ma, Na, et al.
Publicado: (2023) -
Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
por: Li, Haijun, et al.
Publicado: (2022) -
Cleft Palate in a Newborn With Trisomy 21: A Case Report
por: Cabanas, Cristine C, et al.
Publicado: (2023) -
Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis—Analysis of noninvasive and invasive test results
por: Moczulska, Hanna, et al.
Publicado: (2022)