Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294502" target="_blank" >RIV/00216208:11130/15:10294502 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10294502
Result on the web
<a href="http://dx.doi.org/10.1002/ajmg.a.36957" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.36957</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.36957" target="_blank" >10.1002/ajmg.a.36957</a>
Alternative languages
Result language
angličtina
Original language name
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
Original language description
We identified a de novo deletion of 14q11.2 in a Czech patient with developmental delay, mild autistic features, macrosomy, macrocephaly, orthognathic deformities, and dysmorphic facial features. The clinical follow-up of the patient lasting 14 years documented changes in the facial dysmorphism from infancy to adolescence. The deletion affects approximately 200kb of DNA with five protein-coding genes and two snoRNA genes. Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidategenes for a new microdeletion syndrome. Our patient further supports the existence of this syndrome and extends its phenotypic spectrum, especially points to the possibility that orthognathic deformities may be associated with microdeletions of 14q11.2.CHD8 mutations have been found in patients with neurodevelopmental disorders and macrocephaly. The HNRNPC gene, repeatedly deleted in patients with developmental delay, is another candidate as its 5' end is adjacent to the deletion, and
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
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
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
167A
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
837-841
UT code for WoS article
000352019000027
EID of the result in the Scopus database
2-s2.0-84925625610