Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan

Duplication 7 Syndrome

  • Bonita P. “Bonnie” Klein-TasmanEmail author
  • Carolyn B. Mervis
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_9140

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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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Bonita P. “Bonnie” Klein-Tasman
    • 1
    Email author
  • Carolyn B. Mervis
    • 2
  1. 1.Department of PsychologyUniversity of Wisconsin-MilwaukeeMilwaukeeUSA
  2. 2.Department of Psychological and Brain SciencesUniversity of LouisvilleLouisvilleUSA