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”’7q11.23 duplication syndrome”’ (also called ”’dup7”’ or ”’7dup”’ |
”’7q11.23 duplication syndrome”’ (also called ”’dup7”’ or ”’7dup”’) is a rare genetic syndrome caused by [[micro-duplication]] of 1.5-1.8 mega base in section q11.23 of [[chromosome 7]]. The syndrome was first reported in 2005.<ref name=”:2″>{{Cite journal|last=Somerville|first=Martin J.|last2=Mervis|first2=Carolyn B.|last3=Young|first3=Edwin J.|last4=Seo|first4=Eul-Ju|last5=del Campo|first5=Miguel|last6=Bamforth|first6=Stephen|last7=Peregrine|first7=Ella|last8=Loo|first8=Wayne|last9=Lilley|first9=Margaret|date=2005-10-20|title=Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus|journal=New England Journal of Medicine|volume=353|issue=16|pages=1694–1701|doi=10.1056/NEJMoa051962|issn=0028-4793|pmc=2893213|pmid=16236740}}</ref> It is characterized by a wide spectrum of neurological, behavioral, and other medical problems which may appear in different levels of severity.<ref name=”:0″>{{cite journal|last=Mervis|first=Carolyn B.|title=7q11.23 Duplication Syndrome|date=2015|url=https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/|journal=Genetic Conditions|pmid=26610320|access-date=2019-05-26|last2=Morris|first2=Colleen A.|last3=Klein-Tasman|first3=Bonita P.|last4=Velleman|first4=Shelley L.|last5=Osborne|first5=Lucy R.|publisher=University of Washington, Seattle}}</ref> |
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== Signs and symptoms == |
== Signs and symptoms == |
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* The first conference on dup7 was held in Washington DC in June 2018. [https://www.duplicationcares.org/product-category/conference-and-webinar-videos/ Link to the lectures videos] |
* The first conference on dup7 was held in Washington DC in June 2018. [https://www.duplicationcares.org/product-category/conference-and-webinar-videos/ Link to the lectures videos] |
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* Simons Searchlight page on 7q11.23 duplication syndrome includes a guide and their annual registry report on the syndrome: [https://www.simonssearchlight.org/research/what-we-study/7q11-23-duplication/ “a summary for 7q11.23 duplication observed in research publications”]. |
* Simons Searchlight page on 7q11.23 duplication syndrome includes a guide and their annual registry report on the syndrome: [https://www.simonssearchlight.org/research/what-we-study/7q11-23-duplication/ “a summary for 7q11.23 duplication observed in research publications”]. |
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[[Category:Genetic syndromes]] |
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Latest revision as of 19:26, 8 February 2026
Medical condition
| 7q11.23 duplication syndrome | |
|---|---|
| Other names | dup7, 7dup |
7q11.23 duplication syndrome (also called dup7 or 7dup) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7, a region known as the Williams-Beuren syndrome critical region (WBSCR). The syndrome was first reported in 2005.[1] It is characterized by a wide spectrum of neurological, behavioral, and other medical problems which may appear in different levels of severity.[2]
Speech and language
[edit]
7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes Williams syndrome.[2]
A medical examination is recommended for newly diagnosed individuals, including echocardiogram for detection of heart defects (mainly aorta dilation), kidneys ultrasound, and consideration of brain MRI.[2][5]
Intensive speech/language therapy was found to be important for maximizing long-term outcomes.[6]
The prevalence of 7q11.23 duplication syndrome is estimated to be 1 in 7,500 to 20,000 people.[2]
The syndrome was first reported in 2005 by Somerville et al. in the New England Journal of Medicine, in association with severe expressive language delay.[1]
Society and culture
[edit]
Simons Searchlight is an international patient registry for dup7 patients to help speed up research into neurodevelopmental disorders. By collecting detailed participant information and blood samples, Simons Searchlight takes a deep dive into rare genetic conditions, sharing the data and samples for free with researchers. Participation is open to individuals all over the world who speak English and Spanish (and more languages to come). In the future, it might also contain iPSC which will be generated from these blood samples. Anyone who carries a 7q11.23 duplication can join this registry.[7]
- ^ a b Somerville, Martin J.; Mervis, Carolyn B.; Young, Edwin J.; Seo, Eul-Ju; del Campo, Miguel; Bamforth, Stephen; Peregrine, Ella; Loo, Wayne; Lilley, Margaret (2005-10-20). “Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus”. New England Journal of Medicine. 353 (16): 1694–1701. doi:10.1056/NEJMoa051962. ISSN 0028-4793. PMC 2893213. PMID 16236740.
- ^ a b c d e f g h i j k l m n o p Mervis, Carolyn B.; Morris, Colleen A.; Klein-Tasman, Bonita P.; Velleman, Shelley L.; Osborne, Lucy R. (2015). “7q11.23 Duplication Syndrome”. Genetic Conditions. University of Washington, Seattle. PMID 26610320. Retrieved 2019-05-26.
- ^ “7q11.23 duplication syndrome”. Medline Plus. U.S. Department of Human Health and Services.
- ^ a b Morris, Colleen A.; Mervis, Carolyn B.; Paciorkowski, Alex P.; et al. (December 2015). “7q11.23 Duplication Syndrome: Physical Characteristics and Natural History”. American Journal of Medical Genetics. Part A. 167A (12): 2916–2935. doi:10.1002/ajmg.a.37340. ISSN 1552-4825. PMC 5005957. PMID 26333794.
- ^ Parrott Ashley; et al. “Aortopathy in the 7q11. 23 microduplication syndrome” (PDF). American Journal of Medical Genetics Part A. 167 (2).
- ^ Velleman, Shelley L.; Mervis, Carolyn B. (2011-10-01). “Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention”. Perspectives on Language Learning and Education. 18 (3): 108–116. doi:10.1044/lle18.3.108. ISSN 1940-7742. PMC 3383616. PMID 22754604.
- ^ “Simons Searchlight”. Simons Searchlight. n.d. Retrieved 2023-12-27.
