Cargando…
Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability
BACKGROUND & OBJECTIVES: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). Along with clinically relevant variants, CMA platforms also identify variants of unknown signific...
Autores principales: | Boggula, Vijay Raju, Agarwal, Meenal, Kumar, Rashmi, Awasthi, Shally, Phadke, Shubha R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774067/ https://www.ncbi.nlm.nih.gov/pubmed/26831419 http://dx.doi.org/10.4103/0971-5916.174561 |
Ejemplares similares
-
Cytogenetic microarray in prenatal and postnatal diagnosis
por: Phadke, Shubha
Publicado: (2014) -
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients
por: Boggula, Vijay R., et al.
Publicado: (2014) -
Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
por: Kashevarova, A. A., et al.
Publicado: (2023) -
Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants
por: Liehr, Thomas
Publicado: (2016) -
Clinical interpretation of copy number variants in the human genome
por: Nowakowska, Beata
Publicado: (2017)