نتایج جستجو برای: yq microdeletion
تعداد نتایج: 1741 فیلتر نتایج به سال:
It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...
background: cytogenetic analysis, y-chromosome microdeletion screening, fish techniques and other genetic methods have helped in finding the causes of infertility in azoospermic or severe oligoazoospermic cases in the last decade. objective: in the present study, we characterized an abnormal y-chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. materials and met...
The mouse Y chromosome carries 10 distinct genes or gene families that have open reading frames suggestive of retained functionality; it has been assumed that many of these function in spermatogenesis. However, we have recently shown that only two Y genes, the testis determinant Sry and the translation initiation factor Eif2s3y, are essential for spermatogenesis to proceed to the round spermati...
A fetus was prenatally diagnosed as having a Y(nfqs) chromosome which was inherited from the father. With the QFQ technique, the Yqh was observed to be nonfluorescent and contained cytological satellites which were attached to the terminal long arm. The satellites were positively stained by the Ag-NOR technique suggesting that the NORs were active. A battery of DNA probes was used to characteri...
PURPOSE We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions. MATERIALS AND METHODS We retrospectively reviewed clinical data from 213 patients with nonobstructive azoospermia (NOA) and 76 patients with oligoasthenoteratozoospermia (OATS) who were tested for Y chromosome microdeletion ...
A large number of human diseases arise as a result of genetic abnormalities. With the advent of improved molecular biology techniques, the genetic etiology of male infertility is increasing. The common genetic factors responsible for male infertility are chromosomal abnormalities, Yq microdeletion and cystic fibrosis. These are responsible for approximately 30 percent cases of male infertility....
STUDY QUESTION Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents? SUMMARY ANSWER The present study shows that SHOX haploinsufficiency is unlikely to be associated with Y-chromosome microdeletions. WHAT IS KNOWN ALREADY Y-chromosome microdeletions are not commonly known as a majo...
Azoospermia factor (AZF) region microdeletions, which account for about 10-15% of patients with oligoazoospermia, seem to lack a close genotype-testicular phenotype correlation. Although many genetic and non-genetic factors may contribute to this outcome, it was thought that a spontaneous regression of testicular germ cells might also play a relevant role. The opportunity for carrying out two d...
BACKGROUND Sertoli cells nurse germ cells during spermatogenesis, and alterations of Sertoli cell functions have been suggested in cases of spermatogenic failures. METHODS In this work, we measured stem cell factor (SCF) and clusterin mRNA levels, by quantitative RT-PCR, in RNA extracted from testicular biopsies of 49 azoospermic patients classified according to testicular histology as having...
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