Chromosome Studies on Testicular Cells From 50 Subfertile Men

Mcilree, MaureenE.; Price, W. H.; Brown, William; Tulloch, W. Selby; Newsam, J. E.; MacLean, Nancy

doi:10.1016/s0140-6736(66)91803-4

Cited by 94 publications

(27 citation statements)

References 9 publications

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“…Previous studies, notably those of McIllree et al (1966) and Kjessler (1966), have shown that examination of meiotic chromo somes can give information on some causations of male infertility. As yet, most meiotic abnormalities studied have involved structural rearrangement of chromosomes and have not involved defects in their crossingovcr behaviour.…”

Section: Introductionmentioning

confidence: 99%

A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility

Pearson¹,

Ellis

Evans³

1970

Cytogenet Genome Res

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Meiotic and histological studies have been carried out on testicular biopsies from an azoospermic human male who exhibited normal secondary sex characteristics. A failure in the formation of chiasmata during the first meiotic prophase resulted in a breakdown of the subsequent meiotic and spermatogenic processes. The few spermatozoa formed exhibited a range of DNA contents consistent with a random orientation and movement of the meiotic chromosomes. Radiation studies carried out on peripheral lymphocytes demonstrated that the patient had a reduced facility for chromosomal DNA repair. It is suggested that this defect gives an explanation for the failure of chiasma formation since chiasma formation probably involves a breakage, crossingover and repair of chromosomal DNA during the first meiotic prophase.

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Section: Introductionmentioning

confidence: 99%

A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility

Pearson¹,

Ellis

Evans³

1970

Cytogenet Genome Res

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“…Although there were no clonal aberrations but similar chromosomes (6, 8, 13, 14, 15, 17, 21 and 22) were found involved in different aberrations. In previous reports, the chromosomes from D, G and E groups (16,21,22) have been observed most frequently in aneuploid oocytes whereas in males chromosome 21 and 22 show significantly elevated level of aneuploidies. Hence increased frequency of aberrations in sperm and oocyte contribute to high burden of infertility 19 .…”

Section: Discussionmentioning

confidence: 76%

“…The genes might be disrupted because of translocation which might have an effect on the efficiency at which sperm cell first interacts with egg cell. The ring of chromosome 3 observed in one metaphase has been previously associated with spermatogenic impairment [15][16][17]. Close associations in acrocentric chromosomes 13, 14, 15, 21 and 22 were seen in 26% of metaphases in male.…”

Section: Discussionmentioning

confidence: 88%

Case Report on Xq Deletion - As a Cause for Primary Infertility in Male

Sharma

Sambyal²,

Kamboj

2016

Int J of Biomed & Adv Res

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Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but without any success. On cytogenetic analysis chromosomal aberrations were observed in both male and female partners. But male had more aberrations with major clonal aberrations in the form of Xq deletions. The genes CPXCR1, ARPT1, GLUD-2, SAGE-1 and USP26 are located on Xq21, Xq25 and Xq26 regions. These genes show testis specific expression pattern and play an important role in spermatogenesis. Therefore Xq deletions could be a cause for primary infertility in male.

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“…Two normal males with azoospermia and a dicentric (Yq) chromosome have been reported so far [McIlree et al, 1966;Giraud et al, 19771. The phenotype of these two cases was similar to that of our patient (Table I), but both were mosaics with a 45,X cell line.…”

Section: Discussionmentioning

confidence: 99%

Dicentric i(Yq) chromosome and azoospermia

1983

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We have studied a 43-year-old man with azoospermia. Chromosome analysis, using G-, Q-, and C-banding techniques, showed a dicentric 46,X,i(Yq) chromosome abnormality. The clinical, cytogenetic, endocrine, and testicular histologic findings are presented. The case is discussed in relation to the pertinent literature. This represents the first phenotypic male with this karyotype ever reported. Key words: azoospermia, dicentric i(Yq) chromosome, gonadotropins, sex-determining genes, spermatogenesis INTRODUCTIONThe human Y chromosome may show extreme length variability in normal individuals and in individuals with physical abnormalities [Cohen et al, 1966; McKenzie et al, 19721. These variations are due to differences in the length of the fluorescent and the nonfluorescent portion of the long arm of the Y chromosome [Tiepolo and Zuffardi, 1976; Verma et al, 19781. They are inherited in a Mendelian fashion [Bishop et al, 1962;de la Chapelle et al, 1963;Borgaonkar et al, 1969; McKenzie et al, 19721. A great number of different structural rearrangements of the Y chromosome has also been reported. These include deletions [Davis, 1981; Yunis et al, 19771, dicentrics [McIlree et al, 1966;Davis, 1981;Armendares et al, 1972;Cohen et al, 1973;Giraud et al, 1977; Schmid and D'Apuzzo, 19781, duplications [Sperling and Lackmann, 19711, inversions [Jacobs and Ross, 1966; Sparkes et al, 19701, isochromosomes [Jacobs and Ross 1966;Ferguson-Smith et al, 1969;Magnelli et al, 1974; Schmid and D'Apuzzo, 19781, rings [Chandley and Edmond, 1971; Steinbach et al, 19791, satellited Y chromosomes [Schmid, 1969; Turleau et al, 19781, and transloca- [Federman et al, 1967;Schmid, 1969;Biihler et al, 1971; Davis, 19811. These structural aberrations of the human Y chromosome may cause defective testicular histogenesis. The phenotype of persons with such abnormalities may vary from female with or without manifestations of the Ullrich-Turner syndrome to male with fertility [Federman et al, 1967; Chandley and Edmond, 1971; Davis, 19811. We present the clinical, cytogenetic, endocrine, and testicular histologic findings of an azoospermic man with a dicentric i(Yq) chromosome. SUBJECT, METHODS, AND RESULTS Case HistoryA 43-year-old man presented with primary infertility. He has a sister and three brothers who are fertile. He reported normal erection and ejaculation with adequate frequency of coitus. Semen analysis done on three seperate occasions showed azoospermia. He was 178 cm tall, had a span of 172 cm, and a weight of 82 kg. Body hair showed a normal male pattern except for decreased hair over the chest. There was no gynecomastia. Both testes were of normal size and consistency and his penis and urethra were normal. He was otherwise normal (Fig. 1).A testicular biopsy was done and part of the tissue was fixed in Bouin's solution for the histologic examination; the other part was directly transferred to an antibioticcontaining Hanks balanced salt solution for fibroblast culture. Laboratory DataComplete blood count and urinalysis were no...

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Chromosome Studies on Testicular Cells From 50 Subfertile Men

Cited by 94 publications

References 9 publications

A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility

A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility

Case Report on Xq Deletion - As a Cause for Primary Infertility in Male

Dicentric i(Yq) chromosome and azoospermia

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