Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

Martin, Renée H.

doi:10.1111/j.1399-0004.1984.tb02004.x

Cited by 56 publications

(8 citation statements)

References 7 publications

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“…, 1983) and is more likely to result in a viable pregnancy because of the least genomic imbalance (Iselius et al. , 1983; Martin, 1984). Although these authors have documented a predominance of 3 : 1 products, Anton et al.…”

Section: Discussion With Conclusionmentioning

confidence: 99%

“…Pictures show sperm, resulting from alternate, adjacent 1 and 2, 3 : 1 segregations with different signal patterns. Especially,t(11;22)(q23;q11) has been accepted to be associated with preferential 3 : 1 segregation in meiosis I cases (Fraccaro et al, 1980;Iselius et al, 1983) and is more likely to result in a viable pregnancy because of the least genomic imbalance (Iselius et al, 1983;Martin, 1984). Although these authors have documented a predominance of 3 : 1 products, Anton et al (2004) reported that no evidence of such prevalence was found by others.…”

Section: 3%mentioning

confidence: 97%

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Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

et al. 2007

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Balanced reciprocal and Robertsonian translocations are the most common structural chromosome abnormalities in humans, with incidences of 0.7 and 1.23 per 1000. These translocations can affect fertility and/or pregnancy outcome because of possibly impaired production of gametes with an unbalanced zygote caused by the parental arrangement. Fertility problems in male translocation carriers are because of various degrees of sperm alterations that are directly related to the disturbance of the meiotic process. Investigation of human sperm chromosomes was performed by karyotyping spermatozoa after penetration of zona-free hamster oocytes, karyotype analysis now being possible to analyse the segregation patterns by using fluorescent in situ hybridization (FISH). Here, we document the results of meiotic segregation analysis for four Robertsonian and four reciprocal translocation carriers by FISH. In the sperm of Robertsonian translocation males, the majority of spermatozoa were normal/balanced. On the other hand, males with reciprocal translocations demonstrated a high rate of unbalanced spermatozoa of about 50% on meiotic segregation, with an unusually high rate (23.5%) of 3 : 1 segregation. This knowledge can be used for genetic counselling of families with these types of translocations.

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Section: Discussion With Conclusionmentioning

confidence: 99%

Section: 3%mentioning

confidence: 97%

Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

et al. 2007

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“…Using karyotype analysis of the human sperm pronucleus after hamster egg penetration, the association between the frequency of morphologically and chromosomally abnormal sperm was examined in fertile men [ 5 ], translocation carriers [ 6 - 8 ] and post-radiotherapy cancer patients [ 9 - 11 ]. This technique provides detailed information about each individual chromosome, permitting analysis of both numerical and structural abnormalities [ 12 - 14 ].…”

Section: Human Sperm Karyotype Analysismentioning

confidence: 99%

Is there a relationship between sperm chromosome abnormalities and sperm morphology?

Sun

Martin

2006

Reprod Biol Endocrinol

147

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This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal spermatozoa, such as macrocephalic multitailed spermatozoa, are associated with a very significantly increased frequency of aneuploidy. Thus, there may be an association between sperm morphology and aneuploidy in infertile men with specific abnormalities.

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“…These correlations between sperm morphology and aneuploidy, sometimes found in ejaculated sperm, are not found after fertilization. Karyotype data from spermatozoa after penetration in hamster oocytes do not show any relationship between chromosomal abnormalities and sperm morphology in fertile men and in men carrying translocations (Amelar et al ., ; Balkan & Martin, ; Martin, ; Martin et al ., ; Sun et al ., ).…”

Section: Resultsmentioning

confidence: 99%

Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017

et al. 2017

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For over 30 years, sperm morphology assessment has been one of the most common tests in evaluation of fertility. This review examines the clinical relevance of sperm morphology assessment in the diagnosis of infertility and in assisted reproductive technology, as well as its analytical reliability. Publications on the pathophysiology, the analytical reliability of the test and its clinical relevance in diagnosis and in Assisted Reproductive Technology (ART) were evaluated. This review compared and discussed study methodologies and results, including patient characteristics, preparation, smear staining methods and classification systems. The assessment of the percentage of some abnormalities such as for example thin head, amorphous head, or bent or asymmetrical neck is of little clinical use, and their pathophysiology is not well explained as most are physiological traits. Some studies have highlighted correlations between the percentage of normal forms and functional sperm abnormalities, as well as correlations with ability to conceive in vivo and, in some situations, with the success of intra-uterine insemination (IUI) or conventional IVF. However, except in the case of some specific sperm defects (easy to detect with 99 or 100% of spermatozoa affected) and which are often linked to genetic disorders (globozoospermia, macrocephaly, decapitated sperm syndrome and fibrous sheath dysplasia), sperm morphology assessment has very poor sensitivity and specificity in the diagnosis of infertility. Moreover, there is very little evidence that indices of multiple sperm defects [sperm deformity index (SDI), teratozoospermia index (TZI), and multiple abnormalities index (MAI)] are relevant. Above all, many publications report a major lack of analytical reliability of this test, mainly in assessment of the details of sperm abnormalities. Many questions arise concerning how and when sperm morphology should be assessed, and how to interpret the thresholds of normal forms. Questions are raised on the real clinical impact of this test.

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Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)

Cited by 56 publications

References 7 publications

Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

Is there a relationship between sperm chromosome abnormalities and sperm morphology?

Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017

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