Precise breakpoint detection in a patient with 9p– syndrome

Keyphrases

• Breakpoint Detection 100%
• Bionano 100%
• Genome Sequencing 66%
• Developmental Delay 66%
• Patient Phenotype 66%
• Duplication 66%
• Loss Function 33%
• Genomic Data 33%
• 46,XX 33%
• Autism 33%
• Therapeutic Strategies 33%
• Genotype-phenotype Correlation 33%
• Clinical Genomics 33%
• Chromosome 9 33%
• Genetic Imaging 33%
• Advanced Technologies 33%
• Genomic Variants 33%
• Chromosome 13 33%
• Identified Genes 33%
• Single Base 33%
• Single nucleotide 33%
• Chromosome Duplication 33%
• Complex Karyotype 33%
• Translocation Breakpoint 33%
• Dysmorphic Facial Features 33%
• PCDH9 33%
• ZIC2 33%
• RNASEH2B 33%

Biochemistry, Genetics and Molecular Biology

• Karyotype 100%
• Genome Sequencing 100%
• Clinical Genomics 50%
• Chromosome 9 50%
• Chromosome 13 50%
• ZIC2 50%