Cargando…
7p22.2 Microduplication: A Pathogenic CNV?
Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearran...
Autores principales: | Bauleo, Alessia, Montesanto, Alberto, Pace, Vincenza, Guarasci, Francesco, Apa, Rosalbina, Brando, Rossella, De Stefano, Laura, Sestito, Simona, Concolino, Daniela, Falcone, Elena |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297997/ https://www.ncbi.nlm.nih.gov/pubmed/37372471 http://dx.doi.org/10.3390/genes14061292 |
Ejemplares similares
-
3q29 microduplication syndrome: New evidence for the refinement of the critical region
por: Bauleo, Alessia, et al.
Publicado: (2023) -
Epilepsy phenotype in patients with Xp22.31 microduplication
por: Brinciotti, Mario, et al.
Publicado: (2018) -
A new approach to broaden the range of eye colour identifiable by IrisPlex in DNA phenotyping
por: Paparazzo, Ersilia, et al.
Publicado: (2022) -
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
por: Candelo, Estephania, et al.
Publicado: (2019) -
Distal 22q11.2 Microduplication: Case Report and Review of the Literature
por: Pinchefsky, Elana, et al.
Publicado: (2017)