Critical role of Yp inversion in <i>PRKX/PRKY</i>-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development
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45,X testicular disorder of sex development (TDSD), previously known as 45,X maleness, with unbalanced Xp;Yp translocation is an extremely rare condition caused by concomitant occurrence of loss of an X chromosome of maternal origin and an aberrant Xp;Yp translocation during paternal meiosis. We identified a Japanese male infant with an apparently 45,X karyotype who exhibited chondrodysplasia punctata and growth failure. Cytogenetic analysis revealed a 45,X.ish der(X)t(X;Y)(p22.33;p11.2)(DXZ1+,SRY+) karyotype. Array comparative genome hybridization analysis showed a simple Xp terminal deletion involving <i>SHOX</i> and <i>ARSE</i> with the breakpoint just centromeric to <i>PRKX</i>, and an apparently complex Yp translocation with the middle Yp breakpoint just telomeric to <i>PRKY</i> and the centromeric and the telomeric Yp breakpoints around the long inverted repeats for the generation of a common paracentric Yp inversion. Subsequently, a long PCR product was obtained with an X-specific and a Y-specific primers that were designed on the assumption of the presence of a Yp inversion that permits the alignment of <i>PRKX</i> and <i>PRKY</i> in the same direction, and the translocation fusion point was determined to reside within a 246 bp X-Y homologous segment at the “hot spot A” in the 5’ region of <i>PRKX</i>/<i>PRKY</i>, by sequential direct sequencing for the long PCR product. These results argue not only for the presence of rare 45,X-TDSD with Xp;Yp translocation, but also for a critical role of a common paracentric Yp inversion in the occurrence of <i>PRKX</i>/<i>PRKY</i>-mediated unbalanced Xp;Yp translocation.
- Endocrine Journal
Endocrine Journal 60(12), 1329-1334, 2013
The Japan Endocrine Society