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Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report

BACKGROUND: Subchromosomal deletions and duplications are the leading cause of congenital malformations and mental retardation in children. With the recent clinical application of genomic microarrays in the evaluation of patients with developmental delays and congenital malformations, it has led to...

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Detalles Bibliográficos
Autores principales: Li, Rui, Wang, Chaojie, Zhang, Zhenhua, Li, Dongxiao, Li, Lifeng, Zhao, Ding, Xu, Zhaojie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099690/
https://www.ncbi.nlm.nih.gov/pubmed/37046298
http://dx.doi.org/10.1186/s12887-023-03986-3