title: Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
abstract: This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46,XX,ins(22;16)(q13;p13.2p13.3). ish ins(22;16)(RP11-35P16+, RP11-27M24+). arr16p13.2p13.3(85,880-9,413,353)×3 dn arr22q13.33 (51,140,789-51,197,838)×1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype-phenotype correlation.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.|Medical Genetics Sector, State University of Health Sciences of Alagoas, Maceió, Alagoas, Brazil.
authors.forename: Marshall I B
authors.initials: MI
authors.lastname: Fontes
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Ana P
authors.initials: AP
authors.lastname: Santos
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Miriam C
authors.initials: MC
authors.lastname: Molck
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.affiliation: Medical Genetics Sector, State University of Health Sciences of Alagoas, Maceió, Alagoas, Brazil.
authors.forename: Diogo L L
authors.initials: DL
authors.lastname: Nascimento
authors.affiliation: Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas-UFAL, Maceió, Alagoas, Brazil.
authors.forename: Ana K M
authors.initials: AK
authors.lastname: Andrade
authors.affiliation: Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, São Paulo, Brazil.
authors.forename: Ana C V
authors.initials: AC
authors.lastname: Krepischi
authors.affiliation: Department of Medical Clinical, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Appenzeller
authors.affiliation: Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas-UFAL, Maceió, Alagoas, Brazil.
authors.forename: Isabella L
authors.initials: IL
authors.lastname: Monlleó
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D010641:Phenotype
keywords: 16p13.3 duplication; 22q13.33 deletion; array-GH; congenital defects; genotype-phenotype correlation; microarray; translocation