Cytogenetic Analysis. Lymphocyte cultures were established from the proband and her parents. G- and C- banded karyotypes were obtained according to standard protocols.

Molecular Cytogenetic Analysis. Fluorescent in situ hybridization analysis was performed using a whole X-chromosome-painting probe. Dual color FISH was per­formed using a satellite X-chromosome-specific probe (DZX1) in combination with an Xp/Yp telomere region probe and the SHOX gene probe on PAR1.

Molecular Analysis. Blood samples (10 cc) were collected in EDTA from the patient and her parents and DNA was extracted using the salting out method. Deleted regions and parental origin of the abnormal X chromosome was evaluated by polymerase chain reaction (PCR) ampli­fication of the polymorphic regions on the X chromosome. Eight sets of primers were used for the DYSI, DYSII, NM, STR44, STR45, STR49, STR50 and STRHI loci of the dystrophin gene on Xp21.1. The polymorphic CAG repeat of the androgen receptor gene (Xq11.2-12), the CGG region of the FMR-1 gene as well as regions DXS548 and FRAXAC2 on the Xq were also amplified.