Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies

BACKGROUND: Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormal...

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Detalles Bibliográficos
Autores principales: Walker, Austin, Wang, Xianfu, Kim, Young Mi, Lu, Xianglan, Taylor, Ashley, Demarzo, Danielle, Li, Shibo, Pang, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019979/
https://www.ncbi.nlm.nih.gov/pubmed/35440058
http://dx.doi.org/10.1186/s13039-022-00595-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019979/
https://www.ncbi.nlm.nih.gov/pubmed/35440058
http://dx.doi.org/10.1186/s13039-022-00595-0

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