Cargando…
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosom...
Autores principales: | Anguiano, Arturo, Wang, Boris T, Wang, Shirong R, Boyar, Fatih Z, Mahon, Loretta W, El Naggar, Mohamed M, Kohn, Peter H, Haddadin, Mary H, Sulcova, Vladimira, Sbeiti, Adam H, Ayad, Mervat S, White, Beverly J, Strom, Charles M |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298509/ https://www.ncbi.nlm.nih.gov/pubmed/22248351 http://dx.doi.org/10.1186/1755-8166-5-3 |
Ejemplares similares
-
Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays
por: Wang, Jia-Chi, et al.
Publicado: (2014) -
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
por: Hemmat, Morteza, et al.
Publicado: (2014) -
Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
por: Wang, Jia-Chi, et al.
Publicado: (2016) -
Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review
por: Hemmat, Morteza, et al.
Publicado: (2013) -
Neocentric X-chromosome in a girl with Turner-like syndrome
por: Hemmat, Morteza, et al.
Publicado: (2012)