… cytogenetic study in the patient’s karyotype, an unbalanced translocation of the Yp11.3 region
containing the SRY gene to … partially consistent with the clinical picture of spinal muscular …

… Over ten mutations have been identified in the SRY gene; … on the spectrum of clinical
manifestations in 45,X/46,XY … with a normal male phenotype and 46,XX with the translocation is …

… The observed clinical features are similar to those found in … Y chromosome of patient 1 and
a male control DNA (female … and the SRY gene has been translocated to the X chromosome, …

… X/Y translocation ( Table 2 ). All our patients with a 46,XX karyotype were negative for SRY
gene … Nevertheless, the clinical presentation in many studies may be delayed worldwide due …

… 1) translocation of Y sequences, including the SRY gene, to an … The majority of true
hermaphrodites have no cytogenetic … Interestingly, the SRY gene carries a partial deletion in its …

… findings, endocrine testing, and cytogenetic testing. … In the rare cases when SRY is translocated
to another chromosome or … has the clinical findings listed in Suggestive Findings and/or …

… translocations of which 13 had a male phenotype [Hsu, 1994]. In our patient, the locus-specific
probe for the SRY gene showed its translocation to … management. Performing ART without …

… of clinical signs, endocrinological tests and cytogenetic tests. … SRY gene, 46,XX male patients
are divided into two clinical … When the SRY gene is translocated to another chromosome, …

… translocation of the Sex-Determining Region Y (SRY) gene … Presence of the SRY gene in
46,XX OTDSD is difficult to … all patients were 46,XX-SRY negative, clinical presentation was …