IDENTIFICATION BY MOLECULAR DIAGNOSIS OF MOSAIC TURNERS-SYNDROME IN AN OBLIGATE CARRIER FEMALE FOR FRAGILE-X SYNDROME

A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affecte d boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases wa s the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. This report shows that m olecular studies in conjunction with cytogenetic analysis can help in the clinical diagnosis of a rare case and can show the uniqueness of a case such as the one here described.