Monozygotic Twins with 17q21.31 Microdeletion Syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293158" target="_blank" >RIV/00064203:_____/14:10293158 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10293158
Result on the web
<a href="http://dx.doi.org/10.1017/thg.2014.29" target="_blank" >http://dx.doi.org/10.1017/thg.2014.29</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1017/thg.2014.29" target="_blank" >10.1017/thg.2014.29</a>
Alternative languages
Result language
angličtina
Original language name
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
Original language description
Chromosome 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long deletion. The deletion affects the region of a common inversion present in about 20% of Europeans. The inversion is associated with the H2 haplotype carrying additional low-copy repeats susceptible to non-allelic homologous recombination, and this haplotype is prone to deletion. No instances of 17q21.31 deletions inherited from an affected parent have been reported, and the deletions always affected a parental chromosome with the H2 haplotype. The syndrome is characterized clinically by intellectual disability, hypotonia, friendly behavior and specific facial dysmorphism with long face, large tubular or pear-shaped nose and bulbous nasal tip. We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. The 17q21.31 microdeletion was confirmed in both patients but
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/NT14200" target="_blank" >NT14200: Identification of genetic defects in families of patients with autism</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Twin Research and Human Genetics
ISSN
1832-4274
e-ISSN
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Volume of the periodical
17
Issue of the periodical within the volume
5
Country of publishing house
AU - AUSTRALIA
Number of pages
6
Pages from-to
405-410
UT code for WoS article
000343964200008
EID of the result in the Scopus database
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