SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

BACKGROUND: In about one third of healthy subjects, the microscopic analysis of chromosomes reveals heteromorphisms with no clinical implications: for example changes in size of the short arm of acrocentric chromosomes. In patients with a pathological phenotype, however, a large acrocentric short ar...

Descripción completa

Detalles Bibliográficos
Autores principales: Magri, Chiara, Marchina, Eleonora, Bertini, Valeria, Traversa, Michele, Savio, Giulia, Pilotta, Alba, Piovani, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557606/
https://www.ncbi.nlm.nih.gov/pubmed/26149167
http://dx.doi.org/10.1186/s12881-015-0193-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557606/
https://www.ncbi.nlm.nih.gov/pubmed/26149167
http://dx.doi.org/10.1186/s12881-015-0193-y

Ejemplares similares