title: 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
abstract: Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, andPAFAB1H1is the main gene involved. The largest genomic imbalances, including theYWHAEandCRKgenes, cause more severe structural abnormalities of the brain and other associated dysmorphic features. Here, we describe a 3-year-old boy with a microdeletion in 17p13.3 presenting with minor facial dysmorphisms, a cleft palate, neurodevelopmental delay, and behavioral disorder with no structural malformation of the brain. The patient was evaluated by a clinician using a standard protocol. Laboratory investigation included GTG-banding, whole-genome AGH, and array-CGH. Whole-genome AGH and array-CGH analysis identified an estimated 2.1-Mb deletion in the 17p13.3 region showing haploinsufficiency of theYWHAE,CRK,H1C1, andOVCA1genes and no deletion ofPAFAH1B1. The complex gene interaction on brain development and function is illustrated in the genotype-phenotype correlation described here. This report reinforces the importance of the 17p13.3 region in developmental abnormalities and highlights the weak implication of theHIC1andOVCA1genes in palatogenesis.
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil; Department of Medical Genetics Sector, State University of Health Sciences of Alagoas (UNCISAL), Maceió, Brazil.
authors.forename: Marshall I
authors.initials: MI
authors.lastname: Barros Fontes
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Ana P
authors.initials: AP
authors.lastname: Dos Santos
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Fábio
authors.initials: F
authors.lastname: Rossi Torres
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.affiliation: Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.affiliation: Department of Internal Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Appenzeller
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Tânia
authors.initials: T
authors.lastname: Kawasaki de Araujo
authors.affiliation: Department of Clinical Genetics Service, Faculty of Medicine, University Hospital, Federal University of Alagoas (UFAL), Maceió, Brazil.
authors.forename: Isabella
authors.initials: I
authors.lastname: Lopes Monlleó
authors.affiliation: Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
authors.forename: Vera L
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
keywords: Behavioral disorder; Deletion 17p13.3; Microarray; Neurodevelopmental delay; Palatogenesis