Cargando…
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehe...
Autores principales: | Lebedev, Igor N., Karamysheva, Tatyana V., Elisaphenko, Eugeny A., Makunin, Alexey I., Zhigalina, Daria I., Lopatkina, Maria E., Drozdov, Gleb V., Cheremnykh, Aleksander D., Torkhova, Natalia B., Seitova, Gulnara N., Vasilyev, Stanislav A., Kashevarova, Anna A., Nazarenko, Ludmila P., Rubtsov, Nikolay B. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391546/ https://www.ncbi.nlm.nih.gov/pubmed/34440234 http://dx.doi.org/10.3390/biomedicines9081030 |
Ejemplares similares
-
Identification of candidate genes of intellectual disability by single-gene deletions/amplifications mapping using chromosomal microarray analysis
por: Kashevarova, A., et al.
Publicado: (2022) -
Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function
por: Karamysheva, Tatyana V., et al.
Publicado: (2020) -
The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing
por: Karamysheva, Tatyana V., et al.
Publicado: (2022) -
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
por: Fonova, E. A., et al.
Publicado: (2023) -
Generation of microdissected DNA probes from metaphase
chromosomes when chromosome identification
by routine staining is impossible
por: Zadesenets, K.S., et al.
Publicado: (2020)