Translocation heterozygosity and associated subfertility in man

Chandley, Ann C.; Christie, Sheila; Fletcher, J.; Frackiewicz, Anna; Jacobs, Patricia A.

doi:10.1159/000130218

Cited by 71 publications

(41 citation statements)

References 4 publications

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“…Kjessler (1966) noted an inverse correlation between chromosome anomalies and sperm counts in infertile males. In the following years several surveys were carried out after banding techniques had become routine and confirmed that infertile males have a higher prevalence of abnormal karyotypes compared to unselected male newborns (Chandley et al, 1972;Retief et al, 1984;Bourrouillou et al, 1985;DeBraekeleer and Dao, 1991;Guichaoua et al, 1993;Pandiyan and Jequier, 1996).…”

confidence: 98%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

130

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Infertility – the inability to achieve conception or sustain a pregnancy through to live birth – is very common and affects about 15% of couples. While chromosomal or genetic abnormalities associated with azoospermia, severe oligozoospermia or primary ovarian failure were of no importance for reproduction prior to the era of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), advances in assisted reproductive techniques (ART) now enable many infertile couples to have children. These developments have raised the question of the genetic consequences of ICSI: concerns of the potential harm of the invasive procedure and concerns about the genetic risk. The infertile male and female definitely have an increased risk to carry a chromosomal abnormality. Detection of such an abnormality is of fundamental importance for the diagnosis of infertility, the following treatment, the evaluation of the risk for the future child and the appropriate management of the pregnancy to be obtained. Therefore, cytogenetic screening of both partners is mandatory prior to any type of ART. The present review is based on several surveys on male and female infertility and analyzes the types and frequencies of the different reported chromosome abnormalities according to the type of impairment of spermatogenesis and the type of treatment planned or performed. With regard to assisted reproductive techniques (especially ICSI) the main types of chromosomal abnormalities are discussed and their potential risks for ICSI. If available, reported cases of performed ICSI and its outcome are presented. The detection of an abnormal karyotype should lead to comprehensive genetic counselling, which should include all well-known information about the individual type of anomaly, its clinical relevance, its possible inheritance, the genetic risk of unbalanced offspring, and the possibilities of prenatal diagnosis. Only this proceeding allows at-risk couples to make an informed decision regarding whether or not to proceed with ART. These decisions can be made only when both partners have clearly understood the genetic risks and possible consequences when ART is used.

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confidence: 98%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

130

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“…An association between human male infertility and chromosomal anomalies has been known for a long time [56,57]. The incidence of karyotype abnormalities among patients with infertility has been reported to range between 2% to 21%, being low among azoospermic men [58][59][60].…”

Section: Molecular Insight Into Male Infertilitymentioning

confidence: 99%

Male Infertility; Evidences, Risk Factors, Causes, Diagnosis and Management in Human

Sharma¹

2017

Ann Clin Lab Res

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Infertility has become ominous problem. On an average, about 10% of all couples face difficulty in starting a family and this creates a feeling of great personal failure, particularly in India where religious and socio-economic traditions have made it almost imperative for everyone to have children. A significant association had been found between impaired semen quality including sperm count, motility and morphology. In this review, the various contributory etiological factors i.e., exposure to heavy metals, pesticides, industrial chemicals, endocrine factors, genetics causes and modern life style had been discussed which have a serious impact on male infertility. In this article we analyzed data from different sources and present evidences of the possible etiology and risk factors for male infertility. There is a need to emerge at the indiscriminate use and disposal of environmental chemicals. Especially pesticides and industrial chemicals as the chemicals enter the food chain, surface and ground water which had potential for exposure during the critical period of development further avoiding tobacco smoking, excessive alcoholism, excessive heat exposure to the testes can help in improving the semen quality.

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“…There are now a number of conflicting reports on the effects of Robertsonian translocations on the fertility of man (Chandley et al, 1972;Fraccaro et al, 1973;Palmer et al, 1973) and domestic animals (Gustavsson, 1969;Pollock & Bowman, 1974;Bruère & Chapman, 1974;Bruère, 1974aBruère, , b, 1975. It has been assumed that non-disjunction of the homologues of the translocation chromosomes at anaphase I is a regular occurrence in translocation hétéro¬ zygotes, and that a proportion of the unbalanced secondary spermatocytes become mature gametes.…”

Section: Introductionmentioning

confidence: 99%