Cargando…
Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series
BACKGROUND: Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridization (aCGH) analysis has enabled the detection of the ROH. However, for detec...
Autores principales: | Wen, Jiadi, Comerford, Kathleen, Xu, Zhiyong, Wu, Weiqing, Amato, Katherine, Grommisch, Brittany, DiAdamo, Autumn, Xu, Fang, Chai, Hongyan, Li, Peining |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404290/ https://www.ncbi.nlm.nih.gov/pubmed/30886647 http://dx.doi.org/10.1186/s13039-019-0424-6 |
Ejemplares similares
-
Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
por: Chai, Hongyan, et al.
Publicado: (2019) -
Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
por: Chai, Hongyan, et al.
Publicado: (2019) -
Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
por: Xie, Xiaolei, et al.
Publicado: (2022) -
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
por: Xie, Xiaolei, et al.
Publicado: (2020) -
Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma
por: Chai, Hongyan, et al.
Publicado: (2022)