Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome

OBJECTIVES: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other c...

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Detalles Bibliográficos
Autores principales: Chehimi, Samar Nasser, Almeida, Vanessa Tavares, Nascimento, Amom Mendes, Zanardo, Évelin Aline, de Oliveira, Yanca Gasparini, Carvalho, Gleyson Francisco da Silva, Wolff, Beatriz Martins, Montenegro, Marilia Moreira, de Assunção, Nilson Antônio, Kim, Chong Ae, Kulikowski, Leslie Domenici
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160337/
https://www.ncbi.nlm.nih.gov/pubmed/35640457
http://dx.doi.org/10.1016/j.clinsp.2022.100045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160337/
https://www.ncbi.nlm.nih.gov/pubmed/35640457
http://dx.doi.org/10.1016/j.clinsp.2022.100045

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