A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F15%3A43909808" target="_blank" >RIV/00216208:11120/15:43909808 - isvavai.cz</a>
Alternative codes found
RIV/00027162:_____/15:#0001293
Result on the web
<a href="http://dx.doi.org/10.3109/19396368.2015.1045089" target="_blank" >http://dx.doi.org/10.3109/19396368.2015.1045089</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3109/19396368.2015.1045089" target="_blank" >10.3109/19396368.2015.1045089</a>
Alternative languages
Result language
angličtina
Original language name
A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidy
Original language description
Male infertility is a serious problem in an increasing number of couples. We report an infertile man with non-obstructive azoospermia and karyotype 45,XY,rob(14;22). The immunofluorescence analysis of his testicular tissue using antibodies to SYCP1, SYCP3, HORMAD2, MLH1, and centromeres showed delayed synapsis of the chromosomes involved in the translocation, a varying extent of trivalent asynapsis and its association with sex chromosomes. The mean frequency of meiotic recombination per cell was withinthe range of normal values. Fluorescence in situ hybridization (FISH) with probes for chromosomes 14 and 22 revealed 5.83% of chromosomally abnormal testicular spermatozoa. FISH with probes for chromosomes X, Y, and 21 showed frequencies of disomic and diploid testicular spermatozoa increased when compared to ejaculated sperm of healthy donors, but comparable with published results for azoospermic patients. PGD by FISH for the translocation and aneuploidy of chromosomes X, Y, 13, 18, 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
<a href="/en/project/ED1.1.00%2F02.0068" target="_blank" >ED1.1.00/02.0068: Central european institute of technology</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
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
Systems Biology in Reproductive Medicine
ISSN
1939-6368
e-ISSN
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Volume of the periodical
61
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
245-250
UT code for WoS article
000359884900010
EID of the result in the Scopus database
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