Unbalanced karyotype with X;11 translocation associated with SHOX duplication and 11q partial deletion in a girl with amenorrhea and mild mental retardation detected by array CGH: Case Report

• We keep in mind that a case has got amenorrhea, mental retardation, we should test aCGH analyses to detect X-autosome translocation.
• If we find an unbalanced X-autosome translocation in the karyotype, we should be performed an aCGH analyses for identified underlining mechanism.
• If a patient with X;autosome translocation have Turner stigmata without short stature, we must perform FISH analyses to find SHOX gene or other critical regions on chromosome X.