Azoospermia chromosome deletion. Medical search. Frequent questions

Y-chromosome microdeletions are also occasionally identified as a cause of SCO syndrome. (medscape.com)
Men with microdeletions affecting the Y chromosome, particularly in the AZFc (azoospermia factor c) region, can develop oligozoospermia via various mechanisms, depending on the specific deletion. (msdmanuals.com)
The three most common genetic causes of male infertility are Klinefelter syndrome, microdeletions of the Y chromosome, and mutation in the CTFR gene. (andrologyawareness.eu)
Y chromosome microdeletions are a class of most likely genetic factors that occur in a special zone of Y chromosome which is named azoospermia factor region. (virascience.com)
The purpose of this study was to analyze the presence of Y chromosome complete microdeletions in male partner of couples suffering from idiopathic recurrent pregnancy loss among Iranian population. (virascience.com)
Methods: In the present study, Y chromosome microdeletions were evaluated in ninety-two male partners of couples with the experience of recurrent pregnancy loss as the patient group and also a group containing fifty fertile males as the control group. (virascience.com)
sY127, sY134, sY129, for azoospermia factor b and sY254, sY255, for azoospermia factor c were used to screen complete microdeletions in Y chromosome. (virascience.com)
It is possible to determine the cause of a low sperm count by analysing Y chromosome microdeletions. (ibbiotech.com)
An absence of a region, however, means that the patient is a carrier of microdeletions in the Y chromosome. (ibbiotech.com)
If a presence of Y chromosome microdeletions is confirmed, it is also important to understand which region has the deletion (AZFa, AZFb or AZFc) or if there is a combination of them. (ibbiotech.com)
What is the procedure if Y chromosome microdeletions are identified? (ibbiotech.com)
Since the abnormality affects a chromosome, patients who have Y chromosome microdeletions need to be given appropriate genetic guidance. (ibbiotech.com)
Furthermore, all sons of patients with Y chromosome microdeletions will inherit the abnormality. (ibbiotech.com)
Men with microdeletions at the AZFa or AZFb locus always have azoospermia - a condition in which there are no spermatozoa in the semen sample. (andrologylab.gr)

There, she worked in the laboratory of David C. Page, where she worked to map genes linked to male infertility on the Y chromosome, including those that result in a total loss of sperm. (wikipedia.org)
Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children. (medlineplus.gov)
Men with Y chromosome infertility do not have any other signs or symptoms related to the condition. (medlineplus.gov)
Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. (medlineplus.gov)
Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. (medlineplus.gov)
As its name suggests, this form of infertility is caused by changes in the Y chromosome . (medlineplus.gov)
Y chromosome infertility is caused by deletions of genes in the AZF regions. (medlineplus.gov)
As a result, either few sperm develop or sperm do not develop at all, leading to Y chromosome infertility. (medlineplus.gov)
Because Y chromosome infertility impedes the ability to father children, this condition is usually not inherited. (medlineplus.gov)
When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass the genetic changes on the Y chromosome to all their sons. (medlineplus.gov)
As a result, the sons will also have Y chromosome infertility. (medlineplus.gov)
DAZAP1 is a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL.In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)
Azoospermia is the absence of sperm in the semen and often leads to male infertility. (manmatters.com)
The literature indicates that deletion of AZF, especially AZFc,Â is related to azoospermia, oligozoospermia or even infertility. (imed.pub)
More research is needed focusing on possible deletionsÂ that the Y-chromosome may suffer, giving emphasis on their clinicalÂ outcomes and correlations with infertility. (imed.pub)
Ziva fertilityy centre offers effective surgical sperm extraction for azoospermia patients for those with infertility problems who have no sperm in the semen when they ejaculate. (zivafertility.com)
Azoospermia is a significant cause of male infertility when a man ejaculates and has no measurable sperm. (zivafertility.com)
Men with infertility issues like azoospermia are advised to use the novel sperm retrieval technique known as testicular sperm aspiration (TESA). (zivafertility.com)
Chromosome abnormalities, whether they involve the number or structure of chromosomes, represent a primary genetic factor contributing to infertility in couples struggling to conceive. (andersondiagnostics.com)
In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
With this test the most common causes of male infertility can be detected: AZF deletions on the Y-chromosome, (non-mosaic) sex chromosomal aberrations (e.g. (radboudumc.nl)
Lack of one or more AZF regions, called AZF deletions, is a relatively common genetic cause of infertility in men with no or only few sperm cells in the ejaculate. (andrologyawareness.eu)
48,XXYY syndrome, a condition that leads to infertility, developmental and behavioral disorders, and other health problems, is caused by the presence of an extra X chromosome and an extra Y chromosome in cells. (thalitanobregaballet.com)
The rationale behind the present study to understand the genetic basis of male infertility, to identify the "novel gene mutation" and also asses the frequency (%) of microdeletion of Y-chromosome i.e. deletion of AZF regions interfare during spermatogenesis. (journalcra.com)
Still, 10-20% cases of infertility fail to identify exact cause of male infertility and are fall in the category of unexplained cause of infertility in non obstructive azoospermia. (journalcra.com)
The purpose of this work is three-fold: (1) to examine whether MMR gene polymorphisms are associated with increased risk of azoospermia or oligozoospermia, (2) to ascertain whether genetic variants in MMR genes result in sperm DNA damage and, thereby, increase male infertility, and (3) to investigate the biological activity of the significant functional variants. (biomedcentral.com)
It has been shown that germ cells with an extra Y chromosome from men with the 47 XYY karyotype have abnormal meiotic pairing suggesting disrupted meiosis eventual sperm apoptosis and subsequent oligozoospermia and infertility [15 16 Structural chromosomal abnormalities (SCAs) include deletions duplications translocations (balanced imbalanced and Robertsonian) and inversions. (biobender.com)
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review. (nih.gov)
Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature. (nih.gov)
In some cases small parts of the Y chromosome are missing and the genes that give the information to the testes for spermatozoa production are lacking having as a result serious male infertility problems. (andrologylab.gr)
Deletion of DAZ gene is the most common causes of infertility in humans. (ijbs.com)
Whilst most gene abnormalities are not overtly apparent, there is concern that one particular type which is associated with infertility (Y-chromosome deletions) may be passed on to male offspring when assisted techniques such as ICSI do result in pregnancy. (indiahealthtour.com)
Identification of novel homozygous missense and deletion mutations manifesting oligospermia infertility in Kashmiri population. (cdc.gov)

Infertile men may have deficiencies in sperm formation, concentration (eg, oligospermia [too few sperm], azoospermia [no sperm in the ejaculate]), or transportation. (medscape.com)
An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. (medlineplus.gov)
This condition accounts for about 13 percent of cases of azoospermia and 5 percent of severe oligospermia. (medlineplus.gov)
What is the difference between oligospermia and azoospermia? (mcurefertility.com)
In human, an array of four DAZ genes ( DAZ 1-4) is located in two clusters on the Y chromosome and mutations of these genes cause severe oligospermia or azospermia [ 1 ]. (ijbs.com)

The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. (prosci-inc.com)
The most frequent type of AZF deletion is, however, a lack of the AZFc region. (andrologyawareness.eu)
Men who have a specific partial deletion in the AZFc region, called gr/gr deletion, might have a reduced number of sperm cells in the ejaculate. (andrologyawareness.eu)
The deletion frequency AZFa region is 1.0%, while AZFb and AZFc regions showing 6% & 19%, respectively in non obstetric azoospermic cases. (journalcra.com)
The AZF deletions are detected in up to 15% of azoospermic and about 5% of oligozoospermic patients [17 22 23 The deletions affect three distinct regions AZFa AZFb COG5 and AZFc. (biobender.com)
Certain regions called AZFa, AZFb and AZFc that play a role in spermatozoa production have been identified in the Y chromosome. (ibbiotech.com)
There are three regions of the Y chromosome that may be missing, AZFα, AZFb and AZFc. (andrologylab.gr)
It is absolutely necessary for men with AZFc deletion to cryopreserve their semen sample . (andrologylab.gr)

Conditions like azoospermia, characterised by the absence of sperm, may be associated with gene mutations related to cystic fibrosis or deletions in Y-chromosome genes. (andersondiagnostics.com)
The most frequent genetic form of obstructive azoospermia is caused by mutations in the CFTR gene. (andrologyawareness.eu)
examination of the man's DNA to determine if there are deletions (of AZF) or specific mutations , such as cystic fibrosis, related to abnormal seminograms. (genosalut.com)
This achievement by an international team of genetic researchers is expected to open the door to significant insights in how variants and mutations in the Y chromosome are involved in various diseases and health conditions. (darkdaily.com)
This breakthrough will make it possible for other research teams to gain further understanding of the functions of the Y chromosome and how specific gene variants and mutations contribute to specific health conditions and diseases. (darkdaily.com)
Deletion or mutations of their encoding genes usually impair either oogenesis or spermatogenesis or both. (expasy.org)
Chromosome mutations are alterations occurring in chromosomes that typically result from errors during nuclear division or from mutagens. (ps3magic.de)
May 21, 2021 All mutations that change the total number of chromosomes are considered to be genome mutations. (ps3magic.de)
Possible types of mutations in chromosomes include Deletion When a segment of DNA is lost, so there is a missing segment in the chromosome. (ps3magic.de)

However, in light of novel data on genotype-phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended. (blogspot.com)
testicular histology shows complete germ cell loss and degeneration of seminiferous tubules [15 17 The AZFa deletion is a result of nonallelic homologous. (biobender.com)
The AZF test must be done before the biopsy because, if an AZFa or an AZFb deletion is detected, the literature has shown that no sperm will be found in the testicular tissue, so there is no reason for the men to undergo surgery. (andrologylab.gr)

Yao and colleagues found 174 microRNAs (miRNAs) were differentially expressed in human Sertoli cells in men with SCO syndrome compared with men with obstructive azoospermia, suggesting that these miRNAs may be associated with the pathogenesis of SCO syndrome. (medscape.com)
Azoospermia is categorised into two types: obstructive azoospermia and nonobstructive azoospermia. (zivafertility.com)
Klinefelter syndrome is the most common genetic cause of non-obstructive azoospermia. (andrologyawareness.eu)
Non-obstructive azoospermia is the situation where no sperm is found in the ejaculate, and where this is not due to an obstruction of the ways leading the sperm from the testes to the tip of the urethra. (andrologyawareness.eu)
Obstructive azoospermia is the situation where the transport of the sperm cells away from the testes, through the epididymis and via the vas deferens and ejaculatory ducts and the urethra is blocked, resulting in no sperm cells in the ejaculate. (andrologyawareness.eu)
Material and Methods: Blood samples were collected from the cases of clinically diagnosed non obstructive azoospermia (NOA) with respective controls. (journalcra.com)

Offspring of men with severe oligozoospermia or azoospermia have a significantly increased risk of developing cystic fibrosis. (genosalut.com)
While semen analyses of 47 XYY males frequently indicate oligozoospermia or azoospermia the majority of them are fertile with normal semen parameters [16]. (biobender.com)
In patients with oligozoospermia or azoospermia, it also provides us with information on the progress of this failure in sperm production. (ibbiotech.com)

The aim is to explain all the implications from a genetics point of view because the abnormality is present in a chromosome and it will be passed on to the males in the next generation. (ibbiotech.com)
Chromosome abnormality. (ps3magic.de)

[ 6 ] Massive deletions in the azoospermia factor (AZF) region of the Y chromosome, specifically in AZFb/b+c, have been found in men with SCO syndrome. (medscape.com)

Most cases of this condition result from new (de novo) deletions on the Y chromosome that occur during formation of sperm cells in an affected individual's father who is not himself infertile. (medlineplus.gov)
A high percentage of infertile men have deletions that map to regions of the Y chromosome. (prosci-inc.com)
Men who are infertile because of an AZF deletion might still be able to genetically father a child, if there is some degree of sperm production in his testes. (andrologyawareness.eu)
Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)
Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)
AVL-292 Overall SCAs occur in nearly 5% in infertile men (0.5% in the general AVL-292 population) [11 12 17 Most frequently SCAs are found in patients with azoospermia and oligozoospermia. (biobender.com)

Nonobstructive azoospermia is still challenging to treat, but thanks to advances made by our doctors and others, we can help restore sperm to the sperm in some cases. (zivafertility.com)
Depending on their current state, some men with nonobstructive azoospermia benefit from treatment with specific hormones that coax sperm back to their semen or increase the chance that sperm will be discovered during extraction. (zivafertility.com)
We can replenish the sperm in the semen in some men with nonobstructive azoospermia. (zivafertility.com)
Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia. (cdc.gov)

These deletions remove several genes, or in rare cases, a single gene. (medlineplus.gov)
Two isoforms are encoded by transcript variants of this gene.In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)
The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype-phenotype correlations, methodological issues) and provides an update on the results of the quality control programme. (blogspot.com)
Permutation of the fragile X chromosome affects the FMR1 gene, which is present on the X chromosome and results in lower ovarian productivity and reproductive issues. (andersondiagnostics.com)
In the translocation that causes 46,XX testicular difference of sex development, the SRY gene, which is normally found on the Y chromosome, is misplaced, almost always onto an X chromosome. (thalitanobregaballet.com)
An individual with an X chromosome that carries the SRY gene will develop as a male despite not having a Y chromosome, but will not be able to produce sperm to father biological children. (thalitanobregaballet.com)
AVL-292 All genetic defects AVL-292 can be divided into the following categories: chromosome aberrations DNA copy number variants (micro deletions and duplications) single-gene disorders complex conditions and epigenetic disorders. (biobender.com)
Boule is the ancestral gene that is conserved from flies to humans, whereas, Dazl arose in the early vertebrate lineage and Daz arrived on Y chromosome during primate evolution. (expasy.org)
Although both parents must be carriers of the cystic fibrosis gene to pass the disease to their child, men with azoospermia or CAVD and their female partners should undergo testing to avoid passing on the cystic fibrosis gene. (originelle.com)
The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)

Results: With due attention to the data resulted from multiplex polymerase chain reaction and agarose gel electrophoresis in order to recognize Y chromosome micro deletions in azoospermia factor region, in this work, all the bands related to the mentioned primers which were formed during the polymerase chain reaction, were detected on the gel obviously. (virascience.com)
It means that none of the samples neither the fifty fertile men nor the ninety-two patient men had complete micro deletions in their Y chromosome. (virascience.com)
Conclusion: This study suggests that there is no correlation between Y chromosome micro deletions and occurrence of recurrent pregnancy loss in Iranian population. (virascience.com)

Men with an additional X chromosome may develop Klinefelter syndrome, which affects the synthesis of sperm and testosterone. (andersondiagnostics.com)
Rather than having 46 chromosomes, including the two sex chromosomes X and Y (46,XY), boys and men with Klinefelter syndrome have an additional X chromosome (47,XXY). (andrologyawareness.eu)
i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)
Although the sperm of Klinefelter men usually have a normal 23 X or 23 Y haploid genome an increased rate of autosomal and sex chromosome aneuploidies was reported in KS men's offspring [19]. (biobender.com)

On the other hand, chromosomal abnormalities involve alterations in the structure or number of chromosomes that house the DNA. (andersondiagnostics.com)
In chromosomal abnormalities, the sperm may not have the proper size, shape, structure or number of chromosomes. (originelle.com)

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. (prosci-inc.com)

There are two main types of azoospermia Obstructive. (ps3magic.de)

In the case of patients with azoospermia (an absence of spermatozoa in ejaculate), it is also key to understanding the likelihood of finding spermatozoa in the testes and, in turn, the chances of having biological offspring. (ibbiotech.com)

Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. (virascience.com)
Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. (bvsalud.org)
Diagnostic testing is recommended for prenatal diagnosis of ES and other chromosome abnormalities in pregnancy. (bvsalud.org)
In women, chromosome abnormalities can be associated with pregnancy loss or infant clinical issues, such as Down syndrome. (andersondiagnostics.com)
It is estimated that around 10% of males with seminogram abnormalities may have an absence of certain regions of the Y chromosome. (ibbiotech.com)

About 95% of the Y chromosome is composed of the male-specific region of the Y chromosome (MSY), and the other 5% is two pseudoautosomal regions (PAR1 and PAR2) in two ends of this chromosome (Fig. 1 ). (biomedcentral.com)

A Y chromosome microdeletion analysis can be used to check if the Y chromosome is whole or if it has any kind of information loss. (ibbiotech.com)
A Y chromosome microdeletion analysis consists of studying certain regions of the Y chromosome. (ibbiotech.com)
When is a Y chromosome microdeletion analysis advisable? (ibbiotech.com)

Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. (medlineplus.gov)
The correlation of Y-chromosome b2/b3 partial deletions with spermatogenic failure remains dubious. (nih.gov)
Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure]. (cdc.gov)

The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. (virascience.com)

The human Y chromosome is a haploid male-specific chromosome. (biomedcentral.com)
The human Y chromosome now has a full and complete sequence. (darkdaily.com)
After decades of attempts, genetic scientists led by the Telomere-to-Telomere Consortium -a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH)-have finally "generated the first truly complete sequence of a human Y chromosome," which is "the final human chromosome to be fully sequenced," of the 24 human chromosomes, SciTechDaily reported. (darkdaily.com)
The researchers published their findings in the journal Nature titled, " The Complete Sequence of a Human Y Chromosome . (darkdaily.com)

In most individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). (thalitanobregaballet.com)
Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)

An extra copy of the genes contained in the pseudoautosomal region of the Y chromosome may explain the tall stature and other features that can affect those individuals with this condition. (thalitanobregaballet.com)

Chromosomal microarray (CMA) is a sophisticated microarray technology that analyzes the entire genome, detecting submicroscopic chromosomal deletions/duplications known as copy number variants (CNVs). (mapmygenome.in)

called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). (medlineplus.gov)
Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. (thalitanobregaballet.com)
The Y chromosome is the one that differentiates between males and females and it contains the necessary information for appropriate sexual differentiation as well as the generation of spermatozoa. (ibbiotech.com)
envision physician services leadership ' Sex chromosomes determine an individual's sex females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). (ps3magic.de)

The original basic protocol based on two multiplex polymerase chain reactions remains fully valid and appropriate for accurate diagnosis of complete AZF deletions and it requires only a minor modification in populations with a specific Y chromosome background. (blogspot.com)
Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)

Five deletions arose from nonallelic homologous recombination between palindromes P5 and P1 and 2 between P4 and P1. (medscape.com)

The Y chromosome likely contains 70 to 200 genes that provide instructions for making proteins. (thalitanobregaballet.com)

We may also recommend hormone testing and imaging scans of the reproductive tract to learn more about diagnosing azoospermia. (zivafertility.com)

This is also the case in men who has a partial deletion in one of the AZF regions. (andrologyawareness.eu)

During the last 10 years the gr/gr deletion has been demonstrated as a significant risk factor for impaired sperm production. (blogspot.com)
Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Most of these genes are in areas of the Y chromosome called the AZF (azoospermia factor) regions. (andrologyawareness.eu)

and human spermatogenic stem cell culture to treat azoospermia, and to preserve fertility in pre-pubertal boys undergoing cancer treatment. (infertile.com)
Other genes on the Y chromosome are important for enabling men to father biological children (male fertility). (thalitanobregaballet.com)
The full Y chromosome sequence "fills in gaps across more than 50% of the Y chromosome's length, [and] uncovers important genomic features with implications for fertility, such as factors in sperm production," SciTechDaily noted. (darkdaily.com)
DAZ (Deleted in Azoospermia) family genes are important fertility factors in many animals including humans. (ijbs.com)

ABL1 fusion, in which a paracentric inversion within the short arm of chromosome 12 (12p) and a translocation between the long arm of a chromosome 9 and the 12p with the inversion were involved. (bvsalud.org)
Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. (bvsalud.org)
Translocation, in which chromosomal fragments are linked to the wrong chromosome. (andersondiagnostics.com)

The researchers "applied new DNA sequencing technologies and sequence assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human chromosomes," SciTechDaily reported. (darkdaily.com)

Many genes on the Y chromosome are involved in male sex determination and development. (medlineplus.gov)
evaluate the current evidence regarding different aspectsÂ (Epidemiological, histological, physiological and genetic) of male infertilityÂ caused by Y-chromosome microdeletion. (imed.pub)
SurveysÂ also show changes in the male hormone physiology varying the levelsÂ of testosterone/LH/FSH as well as modifying the gonadal morphologyÂ in individuals affected by Y-chromosome microdeletion. (imed.pub)
Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. (biomedcentral.com)
Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
Extra genetic material from the X chromosome interferes with sex development, though affected individuals are often assigned male gender at birth. (thalitanobregaballet.com)
Usually the extra X is result of chromosome nondisjunction in male or female meiosis [18]. (biobender.com)
The sex chromosome combination, particularly the presence of a Y chromosome, triggers a male pattern of development while its absence promotes female development. (lidsen.com)

The Y chromosome contains several genes critical for sperm production. (andrologyawareness.eu)

The vas deferens, epididymis, or ejaculatory ducts are the common regions where obstructions that cause azoospermia to prevail. (manmatters.com)
This test includes a panelwide CNV analysis, including CNV analysis of the AZF regions on the Y-chromosome. (radboudumc.nl)
Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal regions are present on both sex chromosomes. (thalitanobregaballet.com)
The analysis is used to assess the presence of the necessary regions of the Y chromosome for spermatozoa production. (ibbiotech.com)

If you have azoospermia , it means there no sperm seen in your semen. (mcurefertility.com)

DAZ (Deleted in Azoospermia) proteins are found almost exclusively in germ cells in distant animal species. (expasy.org)

It is mainly prescribed for patients with oligozoospermia (under 5 million per ml in the sperm count) or azoospermia (a total absence of spermatozoa in ejaculate). (ibbiotech.com)

With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. (biomedcentral.com)

Underdeveloped ovaries are a symptom of Turner syndrome caused by either a missing or altered X chromosome in females. (andersondiagnostics.com)
Individuals with 47,XYY syndrome have one X chromosome and two Y chromosomes in each cell, for a total of 47 chromosomes. (thalitanobregaballet.com)

Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)

The X-transposed region is a result of a recent X-to-Y transposition that has preserved 99% similarity to their X chromosome sequences. (biomedcentral.com)
Study was performed using RT-PCR based analysis using 14 set of STS markers of AZF region allocated on Y- chromosome and NextGen Sequencing. (journalcra.com)
It is very important to identify the region with the deletion because there are different levels of severity in terms of spermatozoa production. (ibbiotech.com)

Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)

If you're suffering from azoospermia, your sperm count is not measurable. (manmatters.com)

Anatomy64

Organisms4

Diseases38

Chemicals and Drugs25

Analytical, Diagnostic and Therapeutic Techniques and Equipment45

Psychiatry and Psychology1

Phenomena and Processes128

Information Science4

Named Groups1

Health Care3

Microdeletions14

Infertility33

Oligospermia5

AZFc8

Mutations9

AZFa3

Obstructive azoospermia6

Oligozoospermia or azoospermia3

Abnormality2

AZFb1

Infertile6

Nonobstructive4

Gene10

Micro deletions3

Klinefelter4

Structure or number of chromosomes2

Spermatogenesis1

Types of Azoospermia1

Patients with azoospermia1

Abnormalities5

PAR1 and PAR21

Microdeletion analysis3

Spermatogenic failure3

Chromosomal aberrations1

Human Y chromosome4

Testicular2

Pseudoautosomal region1

Genome1

Males4

Diagnosis2

Nonallelic homologous1

Provide instructions for making p1

Reproductive1

Partial1

Factor3

Fertility4

Translocation3

Methods1

Male9

Several genes1

Regions4

Semen1

Germ cells1

Absence1

Proteins1

Syndrome2

Genes cause1

Region3

Inactivation1

Sperm Count1