id:"swepub:oai:gup.ub.gu.se/286395"
Search: id:"swepub:oai:gup.ub.gu.se/286395" > Variable neurodevel...
- 1 of 1
- Previous record
- Next record
- To hitlist
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04789naa a2200733 4500 | |
| 001 | oai:gup.ub.gu.se/286395 | |
| 003 | SwePub | |
| 008 | 240528s2020 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:uu-397168 | |
| 009 | oai:prod.swepub.kib.ki.se:142294948 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2863952 URI |
| 024 | 7 | a https://doi.org/10.1002/mgg3.10132 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3971682 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1422949482 URI |
| 040 | a (SwePub)gud (SwePub)uud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Myers, L.4 aut |
| 245 | 1 0 | a Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications |
| 264 | c 2019-11-15 | |
| 264 | 1 | b Wiley,c 2020 |
| 520 | a Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. Methods We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. Results The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. Conclusion This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
| 653 | a ADHD | |
| 653 | a autism spectrum disorder | |
| 653 | a chromosome 12 | |
| 653 | a duplication | |
| 653 | a phenotype | |
| 653 | a intrauterine growth restriction | |
| 653 | a intellectual disability | |
| 653 | a deletion | |
| 653 | a autism | |
| 653 | a arid2 | |
| 653 | a individuals | |
| 653 | a mutations | |
| 653 | a genes | |
| 653 | a twin | |
| 653 | a Genetics & Heredity | |
| 653 | a ADHD | |
| 700 | 1 | a Blyth, M.u Karolinska Institutet4 aut |
| 700 | 1 | a Moradkhani, K.4 aut |
| 700 | 1 | a Hranilovic, D.4 aut |
| 700 | 1 | a Polesie, Samu Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi,Institute of Clinical Sciences, Department of Dermatology and Venereology4 aut0 (Swepub:gu)xpolsa |
| 700 | 1 | a Isaksson, Johanu Karolinska Institutet,Uppsala universitet,Barn- och ungdomspsykiatri,Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women’s and Children’s Health, Karolinska Institutet; Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council4 aut0 (Swepub:uu)johis856 |
| 700 | 1 | a Nordgren, A.u Karolinska Institutet4 aut |
| 700 | 1 | a Bucan, M.4 aut |
| 700 | 1 | a Vincent, M.4 aut |
| 700 | 1 | a Bolte, S.u Karolinska Institutet4 aut |
| 700 | 1 | a Anderlid, B. M.4 aut |
| 700 | 1 | a Tammimies, K.u Karolinska Institutet4 aut |
| 710 | 2 | a Karolinska Institutetb Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi4 org |
| 773 | 0 | t Molecular Genetics & Genomic Medicined : Wileyg 8:1q 8:1x 2324-9269 |
| 856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.1013 |
| 856 | 4 | u https://doi.org/10.1002/mgg3.1013y Fulltext |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1370670/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/286395 |
| 856 | 4 8 | u https://doi.org/10.1002/mgg3.1013 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-397168 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:142294948 |
Find in a library
- Molecular Genetics & Genomic Medicine (Search for host publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Myers, L.
- Blyth, M.
- Moradkhani, K.
- Hranilovic, D.
- Polesie, Sam
- Isaksson, Johan
- show more...
- Nordgren, A.
- Bucan, M.
- Vincent, M.
- Bolte, S.
- Anderlid, B. M.
- Tammimies, K.
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Psychiatry
- Articles in the publication
- Molecular Geneti ...
- By the university
- University of Gothenburg
- Uppsala University
- Karolinska Institutet
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
