Here we compare gene orders on the Silene latifolia sex chromosomes. On the basis of the deletion mapping results (11 markers and 23 independent Y chromosome deletion lines used), we conclude that a part of the Y chromosome (covering a region corresponding to at least 23.9 cM on the X chromosome) has been inverted. The gradient in silent-site divergence suggests that this inversion took place a...

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in thi...

The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...

Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF). Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the sev...

background: y chromosomal microdeletion is an important genetic disorder, which may arise due to intrachromosomal recombination between homologous sequences in the male specific region of the human y chromosome. it is frequently associated with the quantitative reduction of sperm. the screening for y chromosomal microdeletions has a great clinical value. objective: to develop a sequence tagged ...

BACKGROUND Partial AZFc deletions related to testis-specific gene families are common mutations of the Y chromosome, but their contribution to spermatogenic impairment is still unresolved, and the risk factors for the formation of the deletions remain unknown. With this in mind, we investigated the possible association between Y chromosome haplogroups and predisposition to partial AZFc deletion...

We combine data from published marker genotyping of three sets of S. latifolia Y chromosome deletion mutants with changed sex phenotypes and add genotypes for several new genic markers to refine the deletion map of the Y chromosome and compare it with the X chromosome genetic map. We conclude that the Y chromosome of this species has been derived through multiple rearrangements of the ancestral...

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

Genetic factors cause about 10% of male infertility. Azoospermia factors (AZFa, AZFb, AZFc) are considered to be the most important for spermatogenesis. We therefore made an attempt to evaluate the genetic cause of azoospermia, Y chromosome deletion in particular, in Indian men. We have analyzed a total of 570 men, including 340 azoospermic men and 230 normal control subjects. DNA samples were ...

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...