Adrian Mc Cormack, Karen Claxton, Fern Ashton, Philip Asquith, Edward Atack, Roberto Mazzaschi, Paula Moverley, Rachel O'Connor, Methat Qorri, Karen Sheath, Donald R Love, Alice M George
BACKGROUND: The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases. RESULTS: Of 5369 pre and postnatal samples, copy number variants (CNVs) were detected in 28.3 %, of which ~40 % were deletions and ~60 % were duplications. 96.8 % of cases with a CNV <5 Mb would not have been detected by G banding. At least 4...
2016: Molecular Cytogenetics