This report describes a well-masculinized 33-year-old man with infertility and primary
hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This …

OBJECTIVE: To report a case of a 46, XX SRY-negative man with a male phenotype and
azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a …

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 …

BACKGROUND: The importance of the Y chromosome in male determination hasbeen well
established for a long time. The presence of a translocation of chromosomal material …

BACKGROUND: The SRY gene encodes for a testis-specific transcription factor (TDF, testis
determining factor) that plays a key role in sexual differentiation and development in males …

An individual's sexual phenotype is usually determined by the presence or absence of the Y
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …

OBJECTIVE: To describe a 46, XX male whose infertility is not accounted for by a
translocation of the SRY gene to the X chromosome or to the autosomes. DESIGN: Case …

Most XX male subjects present an anomalous translocation of the sex-determining region of
the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations …

We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter
Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies …

The sex determining region Y gene (SRY) triggers testis determination (1). In the recent past,
it has been shown that mutations of the SRY gene could result in the syndrome of pure …