Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1

Pabst, Brigitte; Glaubitz, Ralf; Schalk, Thomas; Schneider, Ulrich; Schulze, Wolfgang; Miller, Konstantin

doi:10.1016/s0003-3995(02)01100-0

Cited by 14 publications

(10 citation statements)

References 10 publications

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“…While balanced reciprocal translocation governing two autosomal chromosomes is maybe associated with decreased sperm count, infertility and /or the increased risk of recurrent abortion, reciprocal translocation governing Y and an autosomal chromosome is usually associated with azoospermia [18]. It is worthy to note that Y/ autosome translocation may either affect heterochromatic or euchromatic parts of the Y chromosome .The latter case is usually resulted from a breakpoint in Yq11, and in most cases associated with infertility [18]. Nevertheless, there is a reported case with Y/ autosome translocation affecting the Y euchromatic part who has been found to be fertile [18].…”

Section: Discussionmentioning

confidence: 99%

“…It is worthy to note that Y/ autosome translocation may either affect heterochromatic or euchromatic parts of the Y chromosome .The latter case is usually resulted from a breakpoint in Yq11, and in most cases associated with infertility [18]. Nevertheless, there is a reported case with Y/ autosome translocation affecting the Y euchromatic part who has been found to be fertile [18].…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic Analysis in Infertile Male Patients with Oligospermia and Azoospermia in the Southern Region of Iran, Shiraz

Rekabi¹

2016

JCPCR

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Background: Infertility was found to affect approximately 10%-15% of the couples, worldwide. Male factors are responsible for at least 50% of the infertility cases. The chromosomal abnormality is more common in infertile men than in fertile men. However, the aim of this study was to evaluate the frequency and type of major chromosomal abnormalities in the infertile men with problems in their sperm count, who had been referred to cytogenetic center in Shiraz, the main referral center in southern Iran. Materials and Methods: A total of 433 infertile males, with azoospermia [169(31%)] and oligospermia [264(69%)], were included in this prospective observational study. Samples were retrospectively collected from the infertile males, and examined by karyotype analysis. Results: The findings revealed that there are 17.3% chromosomal problems, in which 14.3% and 3% of all cases exhibited numerical and structural abnormalities, respectively. Among the 433 infertile patients, 57(33%) exhibited a numerical sex chromosome abnormality, including 49 (11.3%) subjects with typical Klinefelter syndrome, 4 (2.95%) ones with structural sex chromosome and 11 (4.4%) ones with the autosomal chromosome abnormality. Conclusion: The results from this study demonstrated that chromosomal abnormalities are common in the infertile men with a higher frequency of sex chromosomal abnormality, especially those with the numerical type. This highlights the importance of karyotype findings to make appropriate decisions regarding the management of the patients in infertility clinics.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cytogenetic Analysis in Infertile Male Patients with Oligospermia and Azoospermia in the Southern Region of Iran, Shiraz

Rekabi¹

2016

JCPCR

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“…Translocations involving sex chromosomes have direct consequences on genes required for germ cell differentiation. Translocations between the Y and autosomes are rare and may involve any part of the Y chromosome, often leading to abnormal spermatogenesis and hence infertility [40,41]. The proposed mechanisms for impaired fertility due to sex chromosome translocation are the altered gene loci or impaired formation of sex vesicle during meiosis.…”

Section: Sex-chromosome Translocationmentioning

confidence: 99%

Genetic Testing in Male Infertility

Dada¹

2011

TORSJ

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Infertility is a major health problem which affects approximately 22% of married couples in reproductive age. The apparent increased incidence of male infertility, in parallel with the widespread use of in vitro fertilization (IVF), raises concern as to the impact of advanced assisted conception techniques in transmitting genetic anomalies to the offspring. Recent research has widely focused on genetic factors underlying male infertility and several genetic tests are now clinically available. Genetic testing plays an important role not only to identify the etiology of male infertility but also aids in counseling as well as in the prevention of the transmission of genetic defects to the offspring via assisted reproduction. This review is focused on the syndromic and non-syndromic causes of male infertility and the diagnostic tests use in their evaluation.

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“…The genetic variants both on autosomes and sex chromosomes can influence natural fertility in humans (Kosova et al 2010). Furthermore, some loci on sex chromosomes were transposed from autosomes during primate evolution (Saxena et al 1996); X-autosome or Y-autosome translocations may occur frequently during recombination (Pabst et al 2002); and some genes on autosomes, e.g., estrogen receptor 1 gene ( ESR1 ) on 6q25.1, are related to the function of sex-related hormones or intrauterine or postnatal hormonal influences. Most of the Sex Determining Region Y - Box (SOX) genes are located on autosomes, e.g., SOX9 on 17q23.…”

Section: Introductionmentioning

confidence: 99%

Sex difference of autosomal alleles in populations of European and African descent

et al. 2015

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In the present study, we aimed to report the individual sex-different genetic markers across autosomes in European- and African-origin populations. A total of 8,400 females and 8,081 males in 19 independent cohorts were genotyped across genomes using Illumina or Affymetrix arrays. The allele frequencies were compared between females and males in 9 non-clean cohorts (with some human disease traits) using genome-wide logistic regression and then the nominally significant associations were replicated across 10 clean cohorts (without disease traits). Meta-analysis was performed to derive the combined p values across all cohorts. We found 13 markers that were genome-wide significant (p≤5×10−8) between females and males in the meta-analysis of all cohorts of European descent, including rs7740449 at SYNE1, rs7531151 at PLD5, rs697455 at PPP1R12B, rs6745746 at LOC100128413, rs17000079 at PARM1, rs11948070 at PDE4D, rs7801825 at INSIG1, rs9551642 at MTUS2, rs2932174 at TPTE2, rs1961597 at SALL3, rs4117529 at METTL4, rs6021473 at SALL4 and rs6092466 at RAE1, and one marker, i.e., rs10145208 at PCNX, that was genome-wide significant in the meta-analysis of all cohorts of African descent. The most robust finding was rs7740449 at SYNE1, next to ESR1. We conclude that there are many sex-different markers on autosomes. These markers may be informative in differentiating females and males.

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Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1

Cited by 14 publications

References 10 publications

Cytogenetic Analysis in Infertile Male Patients with Oligospermia and Azoospermia in the Southern Region of Iran, Shiraz

Cytogenetic Analysis in Infertile Male Patients with Oligospermia and Azoospermia in the Southern Region of Iran, Shiraz

Genetic Testing in Male Infertility

Sex difference of autosomal alleles in populations of European and African descent

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