title: Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.
abstract: A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Ann Arbor, Michigan.
authors.forename: Marwan K
authors.initials: MK
authors.lastname: Tayeh
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Ann Arbor, Michigan.
authors.forename: Tracy
authors.initials: T
authors.lastname: Rocco
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Ann Arbor, Michigan.
authors.forename: Todd
authors.initials: T
authors.lastname: Ackley
authors.affiliation: Department of Pathology, University of Michigan Ann Arbor, Michigan.
authors.forename: Leslie
authors.initials: L
authors.lastname: Ernst
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Ann Arbor, Michigan ; Department of Pathology, University of Michigan Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Ann Arbor, Michigan.
authors.forename: Thomas
authors.initials: T
authors.lastname: Glover
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Ann Arbor, Michigan.
authors.forename: Jeffrey W
authors.initials: JW
authors.lastname: Innis
keywords: Chromosomal microduplication; de novo copy number variations; developmental delay; multiple congenital anomalies