Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations

Cohen, Olivier; Cans, Christine; Mermet, M.; Demongeot, Jacques; Jalbert, P

doi:10.1007/bf00210608

Cited by 44 publications

(29 citation statements)

References 31 publications

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“…However, taking into account that each potential imbalance could be defined from the percentages of monosomy and trisomy related to the total haploid genome (Cohen et al 1994), the frequency of viable unbalanced segregants could be modified (Table 1). In this situation, for our translocation carrier, the mode adjacent-1 presents the highest frequency (12.85%) of producing viable unbalanced live birth, then the mode adjacent-2 (9.38%) and finally the mode 3:1 (0.6%).…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

et al. 2003

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luorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier Abstract A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control donors using three-colour fluorescence in situ hybridisation (FISH). The theoretical viability of the different segregation patterns was performed using the computer system HC Forum developed by the Department of Cytogenetics at the Grenoble University Medical School, La Tronche, France. A normal or balanced constitution was found in 56.25% of the analysed spermatozoa. The tertiary 3:1 segregation mode was the most frequently observed (14.37%). The frequencies of adjacent-1, adjacent-2 and 3:1 interchange modes were 12.85, 9.38 and 7.14% respectively. The cumulative frequency of nonviable imbalance was estimated at 20.91% according to the theorical viability of the different segregation patterns. Spermatozoa aneuploidy frequency was also evaluated for chromosomes X, Y and 18, and there was no evidence of interchromosomal effect in spermatozoa from the translocation carrier. FISH analysis of spermatozoa in combination with the viability theorical estimation of the different segregation patterns could be considered a useful tool for genetic counselling in carriers of reciprocal translocation.

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Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

et al. 2003

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“…Risk estimates of having an abnormal child and/or miscarriage vary between F0 and 50 % for fertile translocation carriers (Daniel et al, 1989;Midro et al, 1992). The viability thresholds developed by Cohen et al (1994) might be helpful. Meiotic studies have shown that a translocation can result in spermatogenetic arrest or impairment (Guichaoua et al, 1992).…”

Section: Autosomal Reciprocal Translocationsmentioning

confidence: 99%

Somatic chromosomal abnormalities in infertile men and women

Mau-Holzmann¹

2005

Cytogenet Genome Res

127

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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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“…Moreover, several imbalance production features highlighted by epidemiological studies are still unexplained, such as the sex-ratio deviation in the parental origin of the chromosomal imbalances (Jalbert and Sèle, 1979). These studies have also shown that (1) when imbalances are observed for a particular reciprocal translocation, they are nearly always produced by the same mode of segregation, and (2) the risk of imbalance varies greatly from one translocation to another (Daniel et al, 1988;Cohen et al, 1994). The respective roles of the meiotic segregation mechanism and of natural selection, with respect to the different features described above, are not yet understood.…”

mentioning

confidence: 99%

Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations

Faraut

Mermet²,

Demongeot³

et al. 2000

Cytogenet Genome Res

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We have used data from chromosomally unbalanced offspring observed at birth, as well as data from sperm chromosome analysis, to study the meiotic segregation of reciprocal translocations. Using data from a total of 1,597 unbalanced children, we have observed an excess in maternal origin for all modes of imbalance. This excess is particularly marked for the 3:1 unbalanced mode, for which we have also observed a maternal age effect, indicating a close relationship with autosomal trisomies. In addition, a statistical analysis of data from 34 different published studies using sperm chromosome analysis has demonstrated that factors which, for reasons of viability, produce a predisposition for a particular mode of imbalance at birth also appear to favor meiotic production of this type of imbalance. Thus the production of unbalanced gametes of a particular type is influenced by the size of the imbalance.

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Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations

Cited by 44 publications

References 31 publications

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier

Somatic chromosomal abnormalities in infertile men and women

Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations

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