What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?

Developmental abnormalities in a patient with karyotype 46,XX,bq+.

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

BACKGROUND To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. METHODS Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding ...

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects.

D uring male meiosis the X and Y chromosomes pair along much of their length, with a single obligatory recombination event usually occurring in the pseudoautosomal region (PAR) at the tip of Xp and Yp, thus maintaining identity of the sex chromosome PARs. Occasionally illegitimate crossover occurs outside the PAR, resulting in the transfer of Y specific sequences onto the X chromosome. Such tra...

A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report

Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual  Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external  genitalia to male phenotype with testicular...

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has se...