Genetic counseling in translocations

Simpson, Joe Leigh; Bischoff, Farideh Z.

doi:10.1016/s0094-0143(02)00088-5

Cited by 14 publications

(10 citation statements)

References 30 publications

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“…Similar results have also been reported about other translocations associated with pregnancy wastage (Johannisson et al, 1988;GabrielRobez et al, 1996;Paoloni-Giacobino et al, 2000;Simpson et al, 2002). It is still unknown if the meiotic cells with t(11;18) preferentially formed eggs instead of polar bodies or the t(11;18) gametes preferentially took part in fertilization.…”

Section: Discussionsupporting

confidence: 86%

“…Many studies about reciprocal translocations associated with pregnancy wastage have been reported (de Perdigo et al, 1991a, b;Dai et al, 1994;Villagomez et al, 1995;Paoloni-Giacobino et al, 2000;Simpson et al, 2002). It is possible that the pregnancy wastage detected in this study was related to the t(11;18).…”

Section: Discussionmentioning

confidence: 69%

“…Therefore, heterosynapsis may interfere in normal segregation. Both unsynapsis and heterosynapsis could induce the incidence of unbalanced gametes (Estop et al, 1995;Petkovic et al, 1996;Simpson et al, 2002). In general, the unbalanced gametes are lethal and could not take part in fertilization; once they fertilize with normal eggs, the risk of pregnancy wastage or other genetic disorders will exist.…”

Section: Discussionmentioning

confidence: 99%

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Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

Liu

Wang²,

Zeng³

et al. 2003

Cytogenet Genome Res

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A new male patient associated with a pregnancy wastage was detected in China. Cytogenetic analyses including G-banding, chromosome painting and observation of synaptonemal complexes (SCs) demonstrated that the pregnancy wastage was associated with a balanced reciprocal translocation t(11;18) (q13.3; q23). The proband was the carrier of the translocation and his karyotype was 46,XY,t(11;18)(11pter→11q13.3:: 18q23→18qter; 18pter→18q23::11q13.3→11qter). The pedigree was analyzed based on a G-banded karyotype of the nine familial members. The translocation chromosomes came from the proband’s mother. The result of the SC observation in the proband showed that each of the spermatocytes displayed one quadrivalent during their pachytene stages. In the quadrivalents, there existed homologous and nonhomologous synapses and the latter occurred widely during early, middle and late pachytene stages. The reasons and genetic basis of the pregnancy wastage are discussed.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

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Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

Liu

Wang²,

Zeng³

et al. 2003

Cytogenet Genome Res

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“…It is unclear which of the chromosomal translocations and chromosomes are particularly vulnerable to this effect. Studies of preimplantation genetic diagnosis (PGD) have revealed increased aneuploidy in blastomeres derived from parents with a balanced translocation (Simpson and Bischoff, 2002). For ICE analysis, most often only a limited number of chromosomes has been chosen due to high frequency of trisomy occurring in alive offspring.…”

Section: Discussionmentioning

confidence: 99%

The Analysis of Meiotic Segregation Patterns and Aneuploidy in the Spermatozoa of Father and Son With Translocation t(4;5)(p15.1;p12) and the Prediction of the Individual Probability Rate for Unbalanced Progeny at Birth

Wiland

Midro

Panasiuk

et al. 2007

Journal of Andrology

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Reciprocal chromosomal translocations (RCT) have long been recognized as important etiological factors in reproductive failure. In the present study, the meiotic segregation patterns of the spermatozoa of two related t(4;5)(p15.1;p12) carriers (proband and his father) were compared to the empirical data from a three-generation pedigree for risk assessment. Cytogenetic analysis of the metaphase chromosomes was performed, and triple color fluorescence in situ hybridization (FISH) was applied to the sperm heads. Similar patterns of meiotic segregation were observed for both carriers, despite the finding of teratozoospermia in the proband but not in his father. In addition, an increase of aneuploidy in chromosome 15 in the proband and aneuploidy of chromosomes X and Y in the father were observed. The high rate of miscarriages (6/10 pregnancies and 4/7 pregnancies after ascertainment correction) in this family could be explained by the genetically unbalanced karyotype and fertilization mediated by the unbalanced spermatozoa observed for both men at a frequency of more than 60%. The risk assessment for unfavorable pregnancy outcomes was predicted as 1.6% for unbalanced progeny at birth and about 30% for miscarriage. These figures may be used as guidelines for the genetic counseling of families with similar RCT.

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“…Chromosomal defects either numeric or structural long have been recognized as important etiologic factors in infertility and testicular abnormalities (1,2). Studies in infertile patients have demonstrated about a 5% incidence of chromosomal abnormalities in these patients (3).…”

mentioning

confidence: 99%

Infertility in a man with oligoasthenoteratozoospermia associated with nonrobertsonian translocation t(9;15)(p10;q10)

Aydos

Tükün

2006

Fertility and Sterility

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Genetic counseling in translocations

Cited by 14 publications

References 30 publications

Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18) (q13.3; q23) associated with pregnancy wastage

The Analysis of Meiotic Segregation Patterns and Aneuploidy in the Spermatozoa of Father and Son With Translocation t(4;5)(p15.1;p12) and the Prediction of the Individual Probability Rate for Unbalanced Progeny at Birth

Infertility in a man with oligoasthenoteratozoospermia associated with nonrobertsonian translocation t(9;15)(p10;q10)

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