Molecular Cytogenetic Analysis. The FISH analysis with X-chromosome paint stained one normal and the entire abnormal X chromosome. Dual color FISH showed one hybridization signal for each probe used on the normal X chromosome. On the abnormal idic (X) chromosome, two centromeres were displayed with DXZ1. No signals were present for the telomeres Xp/Yp and the SHOX gene. These findings indicate a complete deletion of the SHOX gene on the idic (X) and therefore, the karyotype of the proband is most probably of 45,X/46,X, idic(X)(qter-> p12.3: :p12.3->qter) (Figs. 2A and 2B).

Molecular Analysis . Molecular analysis of the family showed that the proband is heterozygous for the studied 4/8 dystrophin gene loci (Table 1). Family studies con­cerning the origin of the alleles provided little information for most of the examined loci.