The SRY gene on the short arm of the Y chromosome is necessary for male development.
Without SRY, patients with 46, XY karyotype develop as females, fail to achieve normal …

Isochromosome Y is one of the structural anomalies of the Y chromosome associated with a
45, X cell line and a broad spectrum of phenotypes. We present a case of de novo 46, X,+ …

This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented
an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder …

Abnormal recombination between the X and Y chromosomes during meiosis, occurring
outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y …

We report three patients with XY pure gonadal dysgenesis. Two of these patients developed
gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to …

We report two female patients with gonadal dysgenesis and sex chromosome mosaicism
involving the Y chromosome. Conventional karyotyping was supplemented with fluorescent …

Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The
phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X …

Isochromosomes for the long arm of the Y chromosome are rare and only a few cases have
been reported in the literature. The isochromosome for the long arm of the Y chromosome …

Cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral
gonadoblastoma shared a male karyotype with a rearranged Y chromosome, interpreted as …

Male individuals with a 46, XX karyotype have been designated as XX males. In 80% of the
cases, the presence of Yp sequences, including the male sex‐determining gene, SRY, has …