Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313413741> ?p ?o ?g. }
- W4313413741 endingPage "81" @default.
- W4313413741 startingPage "81" @default.
- W4313413741 abstract "Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (to identify chromosome abnormalities) and Y chromosome microdeletions screening, with a view to explaining the spermatogenetic failure and evaluating the likelihood of sperm retrieval in a testicular biopsy. For patients with de la Chapelle syndrome (a 46,XX karyotype with the presence of SRY (Sex determining region Y) gene) and/or Y chromosome microdeletions, or sex chromosome mosaicism, sperm retrieval is usually unsuccessful. Here, we report a patient with de la Chapelle syndrome and a short stature caused by mosaicism and a very rare chromosome rearrangement: mos 46,X,psu dic(X;Y)/45,X/45,psu dic(X;Y). This case indicates that in de la Chapelle syndrome, X- and Y-chromosome breakpoint variability is high." @default.
- W4313413741 created "2023-01-06" @default.
- W4313413741 creator A5007082765 @default.
- W4313413741 creator A5010393577 @default.
- W4313413741 creator A5013996110 @default.
- W4313413741 creator A5024549593 @default.
- W4313413741 creator A5036503109 @default.
- W4313413741 creator A5037071043 @default.
- W4313413741 creator A5061191585 @default.
- W4313413741 creator A5068205153 @default.
- W4313413741 creator A5084295981 @default.
- W4313413741 creator A5085352905 @default.
- W4313413741 date "2022-12-27" @default.
- W4313413741 modified "2023-10-01" @default.
- W4313413741 title "A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)" @default.
- W4313413741 cites W1573696265 @default.
- W4313413741 cites W1946090066 @default.
- W4313413741 cites W1969649239 @default.
- W4313413741 cites W1975520237 @default.
- W4313413741 cites W1997881630 @default.
- W4313413741 cites W2005568203 @default.
- W4313413741 cites W2016185879 @default.
- W4313413741 cites W2018210037 @default.
- W4313413741 cites W2036800615 @default.
- W4313413741 cites W2058383356 @default.
- W4313413741 cites W2061745487 @default.
- W4313413741 cites W2076826161 @default.
- W4313413741 cites W2084143766 @default.
- W4313413741 cites W2156526029 @default.
- W4313413741 cites W2158260916 @default.
- W4313413741 cites W2171619679 @default.
- W4313413741 cites W2294687789 @default.
- W4313413741 cites W2395893175 @default.
- W4313413741 cites W2518513168 @default.
- W4313413741 cites W2707342418 @default.
- W4313413741 cites W2961422421 @default.
- W4313413741 cites W3083504532 @default.
- W4313413741 cites W3091637319 @default.
- W4313413741 cites W3132077920 @default.
- W4313413741 cites W4200423189 @default.
- W4313413741 cites W4210332975 @default.
- W4313413741 cites W4225087082 @default.
- W4313413741 cites W4293795044 @default.
- W4313413741 doi "https://doi.org/10.3390/genes14010081" @default.
- W4313413741 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36672822" @default.
- W4313413741 hasPublicationYear "2022" @default.
- W4313413741 type Work @default.
- W4313413741 citedByCount "0" @default.
- W4313413741 crossrefType "journal-article" @default.
- W4313413741 hasAuthorship W4313413741A5007082765 @default.
- W4313413741 hasAuthorship W4313413741A5010393577 @default.
- W4313413741 hasAuthorship W4313413741A5013996110 @default.
- W4313413741 hasAuthorship W4313413741A5024549593 @default.
- W4313413741 hasAuthorship W4313413741A5036503109 @default.
- W4313413741 hasAuthorship W4313413741A5037071043 @default.
- W4313413741 hasAuthorship W4313413741A5061191585 @default.
- W4313413741 hasAuthorship W4313413741A5068205153 @default.
- W4313413741 hasAuthorship W4313413741A5084295981 @default.
- W4313413741 hasAuthorship W4313413741A5085352905 @default.
- W4313413741 hasBestOaLocation W43134137411 @default.
- W4313413741 hasConcept C103037022 @default.
- W4313413741 hasConcept C104317684 @default.
- W4313413741 hasConcept C134018914 @default.
- W4313413741 hasConcept C206936463 @default.
- W4313413741 hasConcept C2777420699 @default.
- W4313413741 hasConcept C2777688143 @default.
- W4313413741 hasConcept C2777871287 @default.
- W4313413741 hasConcept C2779234561 @default.
- W4313413741 hasConcept C2779683239 @default.
- W4313413741 hasConcept C2780246931 @default.
- W4313413741 hasConcept C30481170 @default.
- W4313413741 hasConcept C35158069 @default.
- W4313413741 hasConcept C53226629 @default.
- W4313413741 hasConcept C54355233 @default.
- W4313413741 hasConcept C73456138 @default.
- W4313413741 hasConcept C86803240 @default.
- W4313413741 hasConceptScore W4313413741C103037022 @default.
- W4313413741 hasConceptScore W4313413741C104317684 @default.
- W4313413741 hasConceptScore W4313413741C134018914 @default.
- W4313413741 hasConceptScore W4313413741C206936463 @default.
- W4313413741 hasConceptScore W4313413741C2777420699 @default.
- W4313413741 hasConceptScore W4313413741C2777688143 @default.
- W4313413741 hasConceptScore W4313413741C2777871287 @default.
- W4313413741 hasConceptScore W4313413741C2779234561 @default.
- W4313413741 hasConceptScore W4313413741C2779683239 @default.
- W4313413741 hasConceptScore W4313413741C2780246931 @default.
- W4313413741 hasConceptScore W4313413741C30481170 @default.
- W4313413741 hasConceptScore W4313413741C35158069 @default.
- W4313413741 hasConceptScore W4313413741C53226629 @default.
- W4313413741 hasConceptScore W4313413741C54355233 @default.
- W4313413741 hasConceptScore W4313413741C73456138 @default.
- W4313413741 hasConceptScore W4313413741C86803240 @default.
- W4313413741 hasIssue "1" @default.
- W4313413741 hasLocation W43134137411 @default.
- W4313413741 hasLocation W43134137412 @default.
- W4313413741 hasLocation W43134137413 @default.
- W4313413741 hasLocation W43134137414 @default.
- W4313413741 hasOpenAccess W4313413741 @default.