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Duplication 7 Syndrome

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Encyclopedia of Clinical Neuropsychology

Synonyms

Duplication of the Williams syndrome region; Williams-Beuren region duplication syndrome (OMIM 609757)

Short Description or Definition

7q11.23 duplication syndrome (Dup7) results from a recurrent 1.5- to 1.8-Mb heterozygous duplication of the same genetic region deleted in Williams syndrome. All individuals with Dup7 show some effects of the duplication, but the expression of the phenotype is variable. Dup7 is associated with a characteristic facial appearance. Medically, individuals with Dup7 are at increased risk of heart disease (especially aortic dilation), macrocephaly, hydrocephalus, severe constipation, and seizures. Almost all individuals with Dup7 show speech delays and impairments in childhood. Common difficulties include language delay or impairment, learning problems, developmental coordination disorder, social anxiety, selective mutism, attention problems, autism spectrum symptomatology, aggression, and oppositionality. There is a wide range of intellectual...

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Author information

Authors and Affiliations

  1. Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA

    Bonita P. “Bonnie” Klein-Tasman

  2. Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA

    Carolyn B. Mervis

Authors
  1. Bonita P. “Bonnie” Klein-Tasman
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  2. Carolyn B. Mervis
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Correspondence to Bonita P. “Bonnie” Klein-Tasman .

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Editors and Affiliations

  1. Department of Physical Medicine and Rehabilitation, Virginia Commonwealth University, Richmond, VA, USA

    Jeffrey S. Kreutzer

  2. Kessler Foundation, Pleasant Valley Way, West Orange, NJ, USA

    John DeLuca

  3. Independent Practice, Wynnewood, PA, USA

    Bruce Caplan

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Klein-Tasman, B.P.“., Mervis, C.B. (2018). Duplication 7 Syndrome. In: Kreutzer, J.S., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-57111-9_9140

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