Here we describe the first reported case of a patient with a familial paracentric inversion in
the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y …

Dicentrics are among the most common structural abnormalities of the human Y
chromosome. Predicting the phenotypic consequences of different duplications and …

Human Y chromosome is made up of almost an equal amount of euchromatin and
heterochromatin. The heterochromatic region is interspersed in the distal region of the long …

We evaluated a patient with partial gonadal dysgenesis including a right dysgenetic testis
and a left streak gonad with rudimentary fallopian tube and uterus. She had ambiguous …

We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome
(47, XX,+ idic (Y)(q12)), a combination which has to the best of our knowledge not been …

A phenotypic female with histological evidence of mixed gonadal dysgenesis, and 45, X/46,
X, dic (Yq) mosaicism is described. A review of the literature yielded 15 additional cases of …

Three 46, XX hypogonadal subjects are described who exhibited different clinical and
genetic characteristics. Two patients, with complete sex‐reversal, are sterile males with …

An apparent pericentric inversion of the Y chromosome in a severely oligozoospermic
infertile patient is described. The karyotype was 46, X, inv (Y)(p11. 2 q11. 23). DNA analysis …

Cytogenetic investigation of a healthy couple with 4 spontaneous abortions revealed a
pericentric inversion of the Y chromosome. The same abnormality was found in three other …

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 …