A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to asparagine amino acid substitution.

"Sex passport" obligation for female athletes. Consideration and criticisms on 364 subjects.

In Ancient Greece determination of sex was made by direct observation of the all-male athletes participating in the Olympic Games. In 1966 the International Olympic Committee (I.O.

Trisomy 9 mosaicism syndrome. A case report and review of the literature.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome.

The hepatic malignant mesenchymoma: a case report.

We report a case of hepatic mesenchymoma in an 8-year-old girl who presented with abdominal pain and ultrasonographic diagnosis of hepatic echinococcosis. Due to the good general condition of the patient and the diagnostic confirmation of liver hydatid disease by the CT scan, antiparasitic therapy with albendazole was started. After 1 month of therapy the girl's general condition worsened as did the ultrasonographic picture.