background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

infertility affects approximately 15% of couples worldwide. within 50% of cases, man provides reproductive function disorders (1). the cause of infertility in men with oligospermia and azoospermia seems to be due to underlying genetic abnormalities (2). chromosomal abnormalities are one of the causes of human infertility as they interfere with spermatogenesis. the frequency of chromosomal aberr...

Chromosomal polymorphisms (CPM) are minor variation of karyotype, found in >1% the general population. Heterochromatin, inactive part chromosome, shows frequent polymorphism - increase/decrease length. Recently, studies show that heterochromatin is not inert, but contains genes essential for spindle attachment, chromosome movement, meiotic pairing, and sister chromatid cohesion. Balance...

Bone marrow transplantation has become an accepted modality in the treatment of acute leukemia. With this therapy, it is possible to obtain long-term disease-free survival. However, leukemia recurs occasionally. In most cases, leukemic relapse is of recipient origin. There have been several reports, though, of leukemia developing in donor cells. These cases have been limited to instances in whi...

The parental origin of the single X chromosome in 10 45,X fetuses was studied using DNA restriction fragment length polymorphisms. In six the single X was maternal in origin, in one it was paternal, and in one the results were consistent with a paternal origin. Therefore the parental origin of the X in 45,X fetuses that survive to the second or third trimester of pregnancy is similar to that of...

The role of sex chromosomes in sex determination has been well studied in diverse groups of organisms. However, the role of the genes on the sex chromosomes in conferring sexual dimorphism is still being experimentally evaluated. An unequal complement of sex chromosomes between two sexes makes them amenable to sex-specific evolutionary forces. Sex-linked genes preferentially expressed in one se...