Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination
Author:
Affiliation:
1. Department of PediatricsGraduated School of Medicine, Chiba University Chiba Japan
2. Department of BiochemistryHamamatsu University School of Medicine Hamamatsu Japan
3. Department of PediatricsShowa University School of Medicine Tokyo Japan
Publisher
Wiley
Subject
Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12351
Reference8 articles.
1. Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map
2. Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies
3. Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
4. Accurate and exact CNV identification from targeted high-throughput sequence data
5. H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data
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1. The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?;European Journal of Medical Genetics;2022-08
2. Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing;Medicine;2021-12-17
3. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies;Journal of Human Genetics;2021-05-06
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