title: Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.
abstract: Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.
authors.affiliation: Département de Psychiatrie de l'Enfant et de l'Adolescent, Université Pierre et Marie Curie, Groupe Hospitalier Pitié-Salpétrière, AP-HP, 47 bd de l'Hôpital, 75013 Paris, France. david.cohen@psl.aphp.fr
authors.forename: David
authors.initials: D
authors.lastname: Cohen
authors.forename: Claire
authors.initials: C
authors.lastname: Martel
authors.forename: Anna
authors.initials: A
authors.lastname: Wilson
authors.forename: Nicole
authors.initials: N
authors.lastname: Déchambre
authors.forename: Céline
authors.initials: C
authors.lastname: Amy
authors.forename: Ludovic
authors.initials: L
authors.lastname: Duverger
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Guile
authors.forename: Eva
authors.initials: E
authors.lastname: Pipiras
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Hélène
authors.initials: H
authors.lastname: Cavé
authors.forename: Laurent
authors.initials: L
authors.lastname: Cohen
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Monique
authors.initials: M
authors.lastname: Plaza
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D000293:Adolescent; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D003937:Diagnosis, Differential; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D019957:Motor Skills Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D009483:Neuropsychological Tests; D009949:Orientation; D010364:Pattern Recognition, Visual; D010468:Perceptual Disorders / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology