A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

• Published in: PloS one Vol. 11; no. 6; p. e0157075
• Main Authors: Watson, Christopher M, Crinnion, Laura A, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M, Bonthron, David T, Sheridan, Eamonn
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 07.06.2016; Public Library of Science (PLoS)
• Subjects: Abnormalities, Multiple - genetics; Bioinformatics; Biology and Life Sciences; Breakpoints; Chromosome 7; Chromosome Breakpoints; Chromosome Inversion; Chromosomes, Human, Pair 7 - genetics; Consanguinity; Diagnostic systems; DNA sequencing; Feet; Female; Foot Deformities, Congenital - genetics; Gene expression; Gene mapping; Gene sequencing; Genetic aspects; Genetic engineering; Genetics; Genomes; Genomics; Hand Deformities, Congenital - genetics; High-Throughput Nucleotide Sequencing; Homeodomain Proteins - genetics; Humans; Identification methods; Infant, Newborn; Inversion; Karyotypes; Laboratories; Loci; Medical diagnosis; Medicine; Mutation; Palmar-plantar erythrodysesthesia; Parents; Patient outcomes; Research and Analysis Methods; Risk factors; Sequence Analysis, DNA; Syndactyly; Urogenital Abnormalities - genetics; United States

Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxi...