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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03581naa a2200469 4500 | |
| 001 | oai:DiVA.org:uu-140215 | |
| 003 | SwePub | |
| 008 | 110104s2010 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:umu-39240 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1402152 URI |
| 024 | 7 | a https://doi.org/10.1159/0003140252 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-392402 URI |
| 040 | a (SwePub)uud (SwePub)umu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Wentzel, Christianu Uppsala universitet,Medicinsk genetik4 aut0 (Swepub:uu)chwen676 |
| 245 | 1 0 | a Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype |
| 264 | c 2010-06-09 | |
| 264 | 1 | b S. Karger AG,c 2010 |
| 338 | a print2 rdacarrier | |
| 520 | a BACKGROUNDInterstitial deletions of the long arm of chromosome 6 have been described in several patients with obesity and a Prader-Willi-like phenotype. Haploinsufficiency of the SIM1 gene located at 6q16.3 is suggested as being responsible for the regulation of body weight. Here we report on 2 patients with interstitial deletions at 6q14.1-q15 presenting with obesity and symptoms strikingly similar to those reported for deletions involving the SIM1 gene despite not having a deletion of this gene.METHODSArray comparative genomic hybridisation was used to diagnose 2 children with obesity and developmental delay, revealing 2 interstitial deletions at 6q14.1-q15 of 8.73 and 4.50 Mb, respectively, and a region of overlap of 4.2-Mb.RESULTSThe similar phenotype in the 2 patients was most likely due to a 4.2-Mb common microdeletion at 6q14.1-q15. Another patient has previously been described with an overlapping deletion. The 3 patients share several features, such as developmental delay, obesity, hernia, rounded face with full cheeks, epicanthal folds, short palpebral fissures, bulbous nose, large ears, and syndactyly between toes II and III.CONCLUSIONSTogether with a previously reported patient, our study suggests that the detected deletions may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage-sensitive genes in the 6q14.1-q15 region. | |
| 653 | a 6q Deletion | |
| 653 | a Learning disability | |
| 653 | a Mental retardation | |
| 653 | a Obesity | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 653 | a Clinical genetics | |
| 653 | a Klinisk genetik | |
| 700 | 1 | a Lynch, S. A.u National Centre for Medical Genetics, OLCHC, Dublin, Ireland4 aut |
| 700 | 1 | a Stattin, Eva-Lenau Umeå universitet,Medicinsk och klinisk genetik,Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden4 aut0 (Swepub:umu)evst0015 |
| 700 | 1 | a Sharkey, F. H.u Microarray Unit, Cytogenetics Laboratory, Western General Hospital, Edinburgh, UK4 aut |
| 700 | 1 | a Annerén, Göranu Uppsala universitet,Medicinsk genetik4 aut0 (Swepub:uu)goraanne |
| 700 | 1 | a Thuresson, Ann-Charlotteu Uppsala universitet,Medicinsk genetik4 aut0 (Swepub:uu)anncthur |
| 710 | 2 | a Uppsala universitetb Medicinsk genetik4 org |
| 773 | 0 | t Molecular Syndromologyd : S. Karger AGg 1:2, s. 75-81q 1:2<75-81x 1661-8769x 1661-8777 |
| 856 | 4 | u https://www.karger.com/Article/Pdf/314025 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-140215 |
| 856 | 4 8 | u https://doi.org/10.1159/000314025 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-39240 |
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