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Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q

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An Erratum to this article was published on 08 December 2006

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.

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Fig. 1

Notes

  1. This is a common practice in France for children who are not making adequate progress.

  2. Comparative genomic hybridization (CGH) is a recent molecular cytogenetic technique that allows comprehensive analysis of the entire genome. This method permits the rapid detection and mapping of DNA sequence copy number differences between a normal and abnormal genome (Lapierre & Tachdjian, 2002.)

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Acknowledgments

The authors thank the patient and her family for their cooperation.

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Authors and Affiliations

  1. 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, Claire Martel, Nicole Déchambre, Céline Amy & Ludovic Duverger

  2. CNRS, “Cognition et comportement”, Université Paris V, Boulogne, France

    David Cohen, Jean-Marc Guile & Monique Plaza

  3. INSERM-CEA Unit 562 “Cognitive Neuroimaging”, Service Hospitalier Frédéric Joliot, CEA-DRM-DSV, Orsay, France

    Anna Wilson & Laurent Cohen

  4. Département de Psychiatrie, Université de Montréal, Montréal, Canada

    Jean-Marc Guile

  5. Service de Cytogénétique, Groupe Hospitalier Jean Verdier, Bondy, France

    Eva Pipiras & Brigitte Benzacken

  6. Service de Biochimie génétique, Groupe Hospitalier Robert Debré, Paris, France

    Hélène Cavé

  7. Fédération de Génétique, Groupe Hospitalier Pitié-Salpétrière, Paris, France

    Delphine Héron

Authors
  1. David Cohen
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  2. Claire Martel
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  3. Anna Wilson
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  11. Laurent Cohen
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Correspondence to David Cohen.

Additional information

An erratum to this article can be found at http://dx.doi.org/10.1007/s10803-006-0304-x

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Cohen, D., Martel, C., Wilson, A. et al. Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15q. J Autism Dev Disord 37, 1585–1591 (2007). https://doi.org/10.1007/s10803-006-0228-5

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