PMC5007838_01
Results of conventional and molecular cytogenetic analyses, clinical genetic examination and documentation of the phenotype. G-banded (a) and multicolour FISH karyotypes (b) showing dic(X;Y)(p22.33;p13.1). FISH with TelVysion probes Xp/Yp (green signal) and LSI SRY (orange signal) demonstrating the loss of Xp/Yp subtelomeres on the dicentric chromosome and the present SRY gene locus (c). FISH with DXZ1 (green signal)/DYZ3 (orange signal) (d) and deletion of the SHOX gene on dic(X;Y) confirmed by FISH with the probe containing the probes for the SHOX gene (orange signal), DXZ1 (blue signal) and DYZ1 (green signal) (e). Result of CGH/SNP array analysis (k). Diagram of the X chromosome (g). Chromosomal band Xp22.33 in detail (h). Pedigree of the family (f). Arrow indicates the affected proband, question mark indicates the unavailable data about the offsprings. Photographs of partial phenotype (i, j) revealing forearm deformities and auricular hyperplasia
13039_2016_276_Fig1_HTML.jpg
PMC5007838_02_13039_2016_276_Fig1_HTML.jpg
Fig1
The proband's mother had a short stature and the proband was the smallest of six siblings (Fig. 1f). An uncommon auricular malformation was visible on the right ear (Fig. 1j). The features of the forearms, originating from the bowing radius and the dorsal subluxation of the ulna (Madelung deformity), were obvious (Fig. 1i).
PMC5007838_02
Results of conventional and molecular cytogenetic analyses, clinical genetic examination and documentation of the phenotype. G-banded (a) and multicolour FISH karyotypes (b) showing dic(X;Y)(p22.33;p13.1). FISH with TelVysion probes Xp/Yp (green signal) and LSI SRY (orange signal) demonstrating the loss of Xp/Yp subtelomeres on the dicentric chromosome and the present SRY gene locus (c). FISH with DXZ1 (green signal)/DYZ3 (orange signal) (d) and deletion of the SHOX gene on dic(X;Y) confirmed by FISH with the probe containing the probes for the SHOX gene (orange signal), DXZ1 (blue signal) and DYZ1 (green signal) (e). Result of CGH/SNP array analysis (k). Diagram of the X chromosome (g). Chromosomal band Xp22.33 in detail (h). Pedigree of the family (f). Arrow indicates the affected proband, question mark indicates the unavailable data about the offsprings. Photographs of partial phenotype (i, j) revealing forearm deformities and auricular hyperplasia
13039_2016_276_Fig1_HTML.jpg
PMC5007838_02_13039_2016_276_Fig1_HTML.jpg
Fig1
The proband's mother had a short stature and the proband was the smallest of six siblings (Fig. 1f). An uncommon auricular malformation was visible on the right ear (Fig. 1j). The features of the forearms, originating from the bowing radius and the dorsal subluxation of the ulna (Madelung deformity), were obvious (Fig. 1i).
PMC5007838_03
PMC5007838_04
PMC5007838_05
PMC5007838_06
PMC5007838_07