2015
DOI: 10.4238/2015.march.20.3
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Pedigrees of infertile Chinese men with Y chromosome microdeletions derived from natural transmission and de novo mutation

Abstract: ABSTRACT. Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. Karyotype analysis was performed on peripheral blood lymphocytes using standard G-banding. Multiplex polymerase chain reaction amplification using 1… Show more

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Cited by 7 publications
(6 citation statements)
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“…Results from the studies above collectively demonstrated that the prevalence rate of AZF microdeletions in infertile men with azoospermia ranged from 3% to 55% (Ambulkar et al., ). We found that the total prevalence rate of AZF microdeletions in NOA patients who underwent testicular biopsy was 15.6%, which is higher than in other regions of China and other countries (3.9%–13.1%) (Akin et al., ; Ambulkar et al., ; Ferlin et al., ; Li et al., ) and lower than in some other countries (18.8%–20%) (Naasse et al., ; Sheikhha et al., ). The probable reason why the results were different was that our cohort was from NOA patients who underwent testicular biopsy.…”
Section: Discussionmentioning
confidence: 76%
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“…Results from the studies above collectively demonstrated that the prevalence rate of AZF microdeletions in infertile men with azoospermia ranged from 3% to 55% (Ambulkar et al., ). We found that the total prevalence rate of AZF microdeletions in NOA patients who underwent testicular biopsy was 15.6%, which is higher than in other regions of China and other countries (3.9%–13.1%) (Akin et al., ; Ambulkar et al., ; Ferlin et al., ; Li et al., ) and lower than in some other countries (18.8%–20%) (Naasse et al., ; Sheikhha et al., ). The probable reason why the results were different was that our cohort was from NOA patients who underwent testicular biopsy.…”
Section: Discussionmentioning
confidence: 76%
“…It has been shown that some chromosomal polymorphisms can be associated with habitual miscarriage, developmental early pregnancy loss, stillbirth, poor maternal history and cacospermia (Li et al., , ). Among the chromosomal alterations, polymorphic variants are known to occur in 2.7% of the general population.…”
Section: Discussionmentioning
confidence: 99%
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“…Yakass et al (2014), Westlander et al (2003, Benedetti et al (2012), Manente et al (2015), and Hamilton et al (2015) Varicocele Sohrabvand et al (2015) and Aquila et al (2015) Undescended testicle Gupta et al (2015) Testosterone deficiency (male hypogonadism) Jager et al (2013) and Köhler et al (2008) Genetic defects Li et al (2015) and Tenenbaum-Rakover et al (2015) Infections Keck et al (1998), Everaert et al (2003), and Gdoura et al (2008) General health/lifestyle/nutrition Balercia et al (2009a,b) and Gvozdjáková et al (2015) generally occurs between the ages of 13 and 15 and is characterized by the secretion of the male hormone testosterone, which stimulates spermatogenesis (sperm production), and the development of sexual maturity. Sperm cells (spermatozoa) are produced by a complicated process of cell division that occurs over a period of several months.…”
Section: Nutraceuticals In Reproductive and Developmental Disordersmentioning
confidence: 99%
“…Some patients with a "de novo" AZFc deletion were still able to produce small numbers of mature sperm in their ejaculate (i.e., "severe oligozoospermia"), while some patients were found to have inherited their AZFc deletions from their fathers [15][16][17][18] . It could therefore be concluded that the primary pathology of an AZFc deletion is most likely not an SCO syndrome but hypospermatogenesis [13] .…”
mentioning
confidence: 99%