GDI1 and Smith-Magenis syndrome: Moreover, on CMA V4, (case V4-33) a microduplication at 17p11.2-p12, that includes both the Smith-Magenis syndrome (SMS) and Charcot-Marie Tooth disease type 1 A (CMT1A) critical regions, was observed in one patient previously reported as having an abnormal 47,XYY karyotype.