A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F13%3A10193078" target="_blank" >RIV/00216208:11130/13:10193078 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/13:10193078
Result on the web
<a href="http://dx.doi.org/10.1002/ajmg.a.35783" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.35783</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.35783" target="_blank" >10.1002/ajmg.a.35783</a>
Alternative languages
Result language
angličtina
Original language name
A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
Original language description
The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-codingRNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/LD11028" target="_blank" >LD11028: New approaches to early diagnostics of autism</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics, Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
161A
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
865-870
UT code for WoS article
000316631300035
EID of the result in the Scopus database
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