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Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report

BACKGROUND: Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four cases of maternal origin have been reported in worldwide.Thi...

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Detalles Bibliográficos
Autores principales: Peng, Can, LinPeng, SiYuan, Bu, Xiufen, Jiang, XuanYu, Hu, LanPing, He, Jun, Zhou, ShiHao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235183/
https://www.ncbi.nlm.nih.gov/pubmed/35761312
http://dx.doi.org/10.1186/s13039-022-00602-4