XX-MALE SYNDROME

Xx Male Syndrome

The 46, XX disorder of sex development (DSD) is a rare form of sex reversal in infertile men, that was first described by la Chapelle et al. in 1964 and occurred 1:20 000 in newborns. Usually, it is caused by unequal crossingover between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X...

Clinical Report Velocardiofacial Syndrome in an Unexplained XX Male

We report the unusual finding of velocardiofacial syndrome (VCF) in an unexplained 46,XX male. A microdeletion of 22q11.2 was confirmed by fluorescence in situ hybridization (FISH) analysis. Routine G-banded chromosome analysis revealed an XX sex chromosome constitution. FISH was performed using the SRY probe and failed to detect hybridization. The sex chromosome status of the patient was furth...

46 XX male: a case of sex reversal syndrome.

Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines

We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...

Down's syndrome with 47,XX,+21-47,XX,+mar mosaicism.