title: Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.
abstract: BACKGROUND
  Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenotypes with Social Communication Disorder (SCD), may contribute to improve knowledge about the distinction between intellectual deficiency and autism spectrum disorders.
  
  
  METHODS
  We report the clinical and cytogenetic characterization of a patient (male, 33 years-old, first child of healthy Portuguese non-consanguineous parents) presenting with a complex phenotype including SCD without intellectual deficiency and carrying a mosaic supernumerary ring chromosome 19p. Microarray-Based Comparative Genomic Hybridization and Fluorescence in situ Hybridization were performed. Genetic analysis showed a large mosaic interstitial duplication 19p13.12p12 of the short arm of chromosome 19, spanning 8.35 Mb. Our data suggested a putative association between psychosocial dysfunction and mosaic pure trisomy 19p13.2p12.
  
  
  CONCLUSIONS
  This clinical report demonstrated the need to analyze more discreet trait-based subsets of complex phenotypes to improve the ability to detect genetic effects. To address this question and the broader issue of deciphering the yet unknown genetic contributors to complex phenotype with SCD, we suggest performing systematic psychological and psychiatric assessments in patients with chromosomal abnormalities.
authors.affiliation: Centre de dépistage et de prises en charge des troubles psychiatriques d'origine génétique, Pôle Ouest, Centre Hospitalier le Vinatier, 95 bld Pinel, 69677, Bron cedex, France. caroline.demily@ch-le-vinatier.fr.|Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Lyon 1), Lyon, France. caroline.demily@ch-le-vinatier.fr.
authors.forename: Caroline
authors.initials: C
authors.lastname: Demily
authors.affiliation: Hospices Civils de Lyon, service de génétique et centre de référence des anomalies du développement, GHE, Lyon, France. massimiliano.rossi01@chu-lyon.fr.|Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France. massimiliano.rossi01@chu-lyon.fr.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Centre de dépistage et de prises en charge des troubles psychiatriques d'origine génétique, Pôle Ouest, Centre Hospitalier le Vinatier, 95 bld Pinel, 69677, Bron cedex, France. gabrielle.chesnoy-servanin@ch-le-vinatier.fr.|Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Lyon 1), Lyon, France. gabrielle.chesnoy-servanin@ch-le-vinatier.fr.
authors.forename: Gabrielle
authors.initials: G
authors.lastname: Chesnoy-Servanin
authors.affiliation: Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Lyon 1), Lyon, France. brice.martin@ch-le-vinatier.fr.|Service Universitaire de Réhabilitation, Centre Hospitalier le Vinatier, Bron, France. brice.martin@ch-le-vinatier.fr.
authors.forename: Brice
authors.initials: B
authors.lastname: Martin
authors.affiliation: Centre de dépistage et de prises en charge des troubles psychiatriques d'origine génétique, Pôle Ouest, Centre Hospitalier le Vinatier, 95 bld Pinel, 69677, Bron cedex, France. alice.poisson@ch-le-vinatier.fr.|Centre de Neuroscience Cognitive, UMR 5229 (CNRS et Université Lyon 1), Lyon, France. alice.poisson@ch-le-vinatier.fr.
authors.forename: Alice
authors.initials: A
authors.lastname: Poisson
authors.affiliation: Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France. damien.sanlaville@chu-lyon.fr.|Hospices Civils de Lyon, service de génétique, centre de référence des anomalies du développement, laboratoire de cytogénétique, GHE, Lyon, France. damien.sanlaville@chu-lyon.fr.
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.affiliation: Hospices Civils de Lyon, service de génétique et centre de référence des anomalies du développement, GHE, Lyon, France. charles.edery@chu-lyon.fr.|Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France. charles.edery@chu-lyon.fr.
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
mesh_terms: D000328:Adult; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003147:Communication Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes; D014314:Trisomy