CASE REPORT: Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa

Yurov, Yuri B.; Saias, M.J.; Vorsanova, Svetlana G.; Erny, R; Soloviev, Ilia V.; Sharonin, Vasily O.; Guichaoua, Marie Roberte; Luciani, J. M.

doi:10.1093/molehr/2.9.665

Cited by 56 publications

(36 citation statements)

References 10 publications

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“…In contrast to other authors, who reported that 40% of spermatozoa from a SMS patient were euploid ( Yurov et al, 1996), this study observed a 100% proportion of diso-mic spermatozoa and frequently the presence of multiple disomy in the same cell. Moreover, the fetal karyotype of one of the abortions following ICSI was 69,XXX, suggesting fertilization with a diploid spermatozoon.…”

Section: Discussioncontrasting

confidence: 99%

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage

Molinari¹,

Mirabelli

Raimondo

et al. 2013

Reproductive BioMedicine Online

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Section: Discussioncontrasting

confidence: 99%

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage

Molinari¹,

Mirabelli

Raimondo

et al. 2013

Reproductive BioMedicine Online

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“…All of the studied patients presented 100 % teratozoospermia, with enlarged head spermatozoa, percentage ranging from 18.9 to 100 %, with or without acrosome and abnormalities in tail structure. A large variety of chromosomes were analyzed (1, 3, 8, 11, 12, 17, 18, X and Y) and in all cases an extremely elevated aneuploidy frequency was found (Yurov et al, 1996;In't Veld et al, 1997;Weissenberg et al, 1998;Viville et al, 2000;Benzacken et al, 2001;Devillard et al, 2002;Lewis-Jones et al, 2003;Vicari et al, 2003), with the exception of two patients in Vicari et al (2003). Indeed, Vicari et al who compared three patients with different levels of enlarged head spermatozoa (54.3 %, 18.9 % and 26.5 % respectively) observed XY disomy in patients with the highest percentage of enlarged heads but not in the others (15.94 %, 0 %, 0 % respectively).…”

Section: Enlarged Head Teratozoospermiamentioning

confidence: 99%

Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia

Machev

Gosset²,

Viville

2005

Cytogenet Genome Res

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology in sperm. This condition is frequently associated with infertility and intracytoplasmic sperm injection (ICSI) is frequently used as the treatment of choice. However, the use of ICSI has created consequential debate concerning the genetic risk for the offspring. Fluorescence in situ hybridization technique (FISH), allowing the specific identification of human chromosomes in sperm nuclei, has been used to study chromosome abnormalities in sperm from men with teratozoospermia and a normal karyotype. In this review, we present studies that have tried to determine if men with a normal blood karyotype but suffering from teratozoospermia present a higher aneuploidy frequency. The literature is limited to three forms of teratozoospermia. The first group consists of “polymorphic teratozoospermia”, where a majority of spermatozoa display more than one type of abnormality. In this case, only a slight increase in aneuploidy frequency is observed, which cannot be differentiated from the results observed in oligo-astheno-teratozoospermia (OAT). The second group, named “globozoospermia”, is characterized by round spermatic heads, absence of acrosome and disorganization of mid-piece and tail. In this case, some studies have shown a significant, but moderate, increase in the aneuploidy frequency for acrocentrics and sex chromosomes. The aneuploidy frequency remains low, also ICSI can be proposed to these patients, but few successes occur. The third group consists of “enlarged head teratozoospermia”, where almost all spermatozoa have an enlarged head, multiple tail and abnormal acrosome. In this case a very high level of missegregation is observed, leading to nearly 100% aneuploidy. In this particular group, ICSI must be refuted, and patients have to be redirected to other possibilities, like sperm donation.

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“…The DNA probe collection includes the set of centromeric and pericentromeric DNA probes for all human chromosomes, telomeric and subtelomeric probes, and band-specific DNA probes for a large number of human chromosome regions (Yurov et al 2002). The original collection, containing a broad spectrum of DNA probes, was found to be applicable for different chromosome complement studies (Soloviev et al 1995(Soloviev et al , 1998Vorsanova et al 1986Vorsanova et al ,1994Yurov et al 1996aYurov et al ,b, 2002. The collection includes more than 800 selected and accurately tested DNA probes as recombinant plasmid, cosmid, YAC, and PAC clones specifically marking different regions of all 24 human chromosomes (Yurov et al 2002).…”

mentioning

confidence: 99%

The Variation of Aneuploidy Frequency in the Developing and Adult Human Brain Revealed by an Interphase FISH Study

Yurov

Iourov

Monakhov

et al. 2005

J Histochem Cytochem.

134

135

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and Institute of Pediatrics and Children's Surgery, Russian Ministry of Health, Moscow, Russia (SGV) S U M M A R Y Despite the lack of direct cytogenetic studies, the neuronal cells of the normal human brain have been postulated to contain normal (diploid) chromosomal complement. Direct proof of a chromosomal mutation presence leading to large-scale genomic alterations in neuronal cells has been missing in the human brain. Large-scale genomic variations due to chromosomal complement instability in developing neuronal cells may lead to the variable level of chromosomal mosaicism probably having a substantial effect on brain development. The aim of the present study was the pilot assessment of chromosome complement variations in neuronal cells of developing and adult human brain tissues using interphase multicolor fluorescence in situ hybridization (mFISH). Chromosome-enumerating DNA probes from the original collection (chromosomes 1, 13 and 21, 18, X, and Y) were used for the present pilot FISH study. As a source of fetal brain tissue, the medulla oblongata was used. FISH studies were performed using uncultured fetal brain samples as well as organotypic cultures of medulla oblongata tissue. Cortex tissues of postmortem adult brain samples (Brodmann area 10) were also studied. In cultured in vitro embryonic neuronal brain cells, an increased level of aneuploidy was found (mean rate in the range of 1.3-7.0% per individual chromosome, in contrast to 0.6-3.0% and 0.1-0.8% in uncultured fetal and postmortem adult brain cells, respectively). The data obtained support the hypothesis regarding aneuploidy occurrence in normal developing and adult human brain. T he human brain is the control center that stores, computes, integrates, and transmits information. It contains ‫ف‬ 10 12 neurons, each forming as many as a thousand connections with other neurons (Lodish et al. 2000). There have been no direct studies of large-scale genomic variations and chromosomal complement in the human central nervous system. Without experimental proof, the neuronal cells of the normal brain were postulated to contain normal (diploid) chromosome complement. However, indirect evidence for some forms of somatic, genomic, and chromosomal alterations in the neurons of mouse brain has been obtained. By means of fluorescence in situ hybridization (FISH) and spectral karyotype analysis of mouse embryonic cerebral cortical neuroblasts in the developing and adult nervous system, more than 30% of neuroblasts were found to be aneuploid (Rehen et al. 2001). Visualization of metaphase chromosomes by a nuclear transfer technique in mouse cortical neurons has indicated that the majority are characterized by an abnormal karyotype (Osada et al. 2002). Therefore, there is evidence for genomic variation at the level of whole chromosomes in developing and adult mouse neurons.There are only a limited number of molecular cytogenetic studies of the human brain using interphase FISH. The use of FISH was reported for examination of the interphase nuclei chromosomal co...

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CASE REPORT: Rapid chromosomal analysis of germ-line cells by FISH: an investigation of an infertile male with large-headed spermatozoa

Cited by 56 publications

References 10 publications

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage

Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage

Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: teratozoospermia

The Variation of Aneuploidy Frequency in the Developing and Adult Human Brain Revealed by an Interphase FISH Study

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