In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969). Women with deletion of the short arm of the X chromosome invariably have short stature and streak gonads, and usually have several of the other malformations of Turner's syndrome, while those whoseX...

In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969). Women with deletion of the short arm of the X chromosome invariably have short stature and streak gonads, and usually have several of the other malformations of Turner's syndrome, while those whoseX...

BACKGROUND Microdeletions of the Y chromosome are one of the most frequent genetic causes of spermatogenic failure in infertile men. But their role in gaining weight is unclear. The present study investigated the possible association of these partial microdeletions and obesity. METHODS In a case-control study, 180 males were selected. The prevalence of microdeletions was assessed using PCR in...

In Drosophila melanogaster, deletions of the pericentromeric X heterochromatin cause X-Y nondisjunction, reduced male fertility and distorted sperm recovery ratios (meiotic drive) in combination with a normal Y chromosome and interact with Y-autosome translocations (T(Y;A)) to cause complete male sterility. The pericentromeric heterochromatin has been shown to contain the male-specific X-Y meio...

White campion is a dioecious plant with heteromorphic X and Y sex chromosomes. In male plants, a filamentous structure replaces the pistil, while in female plants the stamens degenerate early in flower development. Asexual (asx) mutants, cumulating the two developmental defects that characterize the sexual dimorphism in this species, were produced by gamma ray irradiation of pollen and screenin...

Male fertility is an orchestrated interplay of loci on the Y chromosome with a number of genes from across the other chromosomes. In this context, micro-deletions in the Y chromosome have been correlated with spermatogenic failure often leading to infertility. However, causes of infertility in the patients with the normal spermiogram have remained unclear and therefore pose another level of cha...

BACKGROUND Y chromosome microdeletions are associated with severe male factor infertility. In this study, the success rate of testicular sperm retrieval was determined for men with deletions of AZF regions a, b or c. METHODS AZF deletions were detected by PCR of 30 sequence-tagged sites within Yq emphasizing the AZFa, b and c regions. Semen analysis and diagnostic testis biopsy or testicular ...

BACKGROUND X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear. METHODS This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence...

A genetic basis of infertility may exist in many men currently classified as having idiopathic infertility. Approximately 7% of infertile men harbour submicroscopic deletions of the Y chromosome that are not detectable on routine karyotype. Two candidate gene families, namely the RNA-binding motif-containing gene family, and the deleted-in-azoospermia gene family, have been cloned by deletion m...

Background and Aims: Azoospermia factor (AZF) region of the Y-chromosome has several genes which are responsible for normal spermatogenesis. Microdeletions of these genes are associated with azoospermia and oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily identified using polymerase chain reaction. The aim of this study is to determine the frequ...