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A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study

BACKGROUND: There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader–Willi/Angelman critical region. Trisomy...

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Detalles Bibliográficos
Autores principales: Lemskaya, Natalya A., Romanenko, Svetlana A., Rezakova, Mariia A., Filimonova, Elena A., Prokopov, Dmitry Yu., Dolskiy, Alexander A., Perelman, Polina L., Maksimova, Yulia V., Shorina, Asia R., Yudkin, Dmitry V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8489072/
https://www.ncbi.nlm.nih.gov/pubmed/34607577
http://dx.doi.org/10.1186/s13039-021-00565-y