Data di Pubblicazione:
2014
Citazione:
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency / C., Krausz; Chianese, Chiara; D., Lo Giacco; F., Tuttelmann; A., Ferlin; P., Ntostis; S., Vinci; G., Balercia; E., Ars; E., Ruiz Castane; Giglio, Sabrina Rita; S., Kliesch; G., Forti. - In: HUMAN REPRODUCTION. - ISSN 0268-1161. - 29:5(2014), pp. 1114-1115. [10.1093/humrep/deu037]
Abstract:
This letter addresses the debate between our recently published paper (Chianese et al., 2013) and the earlier publication of Jorgez et al. (2011).
Overall, we feel that Jorgez et al. missed the main objective of our study, which was SHOX gene dosage and not pseudoautosomal region-1 (PAR1)-related copy number variations (CNVs). We investigated this specific aspect, as the alarming finding of SHOX haploinsufficiency in 5.4% of azoospermia factor (AZF) deletion carriers with normal karyotype (Jorgez et al., 2011) raised much concern for the genetic counselling of Y-chromosome deletion carriers. Our conclusion was completely different and analytical issues have been proposed to explain the differences.
Overall, we feel that Jorgez et al. missed the main objective of our study, which was SHOX gene dosage and not pseudoautosomal region-1 (PAR1)-related copy number variations (CNVs). We investigated this specific aspect, as the alarming finding of SHOX haploinsufficiency in 5.4% of azoospermia factor (AZF) deletion carriers with normal karyotype (Jorgez et al., 2011) raised much concern for the genetic counselling of Y-chromosome deletion carriers. Our conclusion was completely different and analytical issues have been proposed to explain the differences.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Y-chromosome; SHOX haploinsufficiency; Copy number variations
Elenco autori:
C., Krausz; Chianese, Chiara; D., Lo Giacco; F., Tuttelmann; A., Ferlin; P., Ntostis; S., Vinci; G., Balercia; E., Ars; E., Ruiz Castane; Giglio, Sabrina Rita; S., Kliesch; G., Forti
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