A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F15%3A00086994" target="_blank" >RIV/00216224:14310/15:00086994 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1186/s13039-015-0157-0" target="_blank" >http://dx.doi.org/10.1186/s13039-015-0157-0</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13039-015-0157-0" target="_blank" >10.1186/s13039-015-0157-0</a>
Alternative languages
Result language
angličtina
Original language name
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
Original language description
We report two unrelated patients with overlapping 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.
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/EE2.3.20.0183" target="_blank" >EE2.3.20.0183: Center of Experimental Biomedicine</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
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
MOLECULAR CYTOGENETICS
ISSN
1755-8166
e-ISSN
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Volume of the periodical
8
Issue of the periodical within the volume
57
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
"nestrankovano"
UT code for WoS article
000358831000001
EID of the result in the Scopus database
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