Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Soumia Brakta, Zoe Hawkins, Nikhil Sahajpal, Natalie Seman, Dina Kira, Lynn P. Chorich, Hyung‐Goo Kim, Hongyan Xu, John A. Phillips, Ravindra Kolhe, Lawrence C. Layman
Topics & Concepts
BiologyProbandGeneticsChromosomal translocationKaryotypeCopy-number variationGeneComparative genomic hybridizationGenomeChromosomeMutationPrenatal Screening and DiagnosticsGenetic Syndromes and ImprintingGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities