Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes

Lim, Chun Kyu; Cho, Jae Won; Song, In Ok; Kang, Inn Soo; Yoon, Yong‐Dal; Jun, Jin Hyun

doi:10.1016/j.fertnstert.2007.10.035

Cited by 46 publications

(38 citation statements)

References 32 publications

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“…Analysis of meiotic segregation modes by FISH in pre-implantation embryos from pre-implantation genetic diagnosis cycles showed that 2:2 segregation was the predominant segregation mode (59.1%) followed by, 3:1 segregation (22.0%), and 4:0 segregation (2.0%). In the 2:2 segregations, incidence of adjacent-1 (26.8%) was higher than that of alternate (22.4%) or adjacent-2 (6.1%) segregation (11). Most of the embryos with unbalanced genetic content were eliminated by spontaneous abortions and still births (21).…”

Section: Discussionmentioning

confidence: 91%

“…In case 10, der (6) t (6;13) (p23;q12) had developed from adjacent-1 segregation of the paternal translocation and resulted in partial trisomy 13q13-qter region and concomitant monosomy of the 6p23-pter. However, in case 11, the der (5) t(5;13) (p15;q12) derivative chromosome was de novo and resulted in partial trisomy 13q12-qter and monosomy 5p15-pter, The rate of interchange trisomy resulting from 3:1 segregation was higher in balanced translocations with acrocentric chromosomes with a frequency of 9.5% than that without acrocentric chromosomes at 4.3% (11). To our knowledge, our case 12 is the first case with interchange trisomy of the chromosome 7 detected in spontaneous abortion material resulting from 3:1 segregation of the familial translocation t(5;7)(q13;p11.2).…”

Section: Discussionmentioning

confidence: 93%

“…Unbalanced chromosome constitution could affect placental development resulting in pregnancy failure (9,10). Carriers of balanced reciprocal translocations have a high reproductive risk of conceiving chromosomally abnormal embryos as a result of imbalances during meiosis, leading to recurrent abortions or birth of affected children (3,11). Chromosomal abnormalities can be detected by using conventional cytogenetic analysis.…”

Section: Introductionmentioning

confidence: 99%

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Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

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Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre experience of anomalies detected in spontaneous abortions. Material and Method:We present rare numerical and structural cytogenetic abnormalities detected in spontaneous abortion materials and the histopathological findings of rest material of abortion specimens in our study population.Results: Among 457 cases, 382 were successfully karyotyped while cell culture of 75 cases failed. Cytogenetic abnormalities were detected in 127 of 382 cases (33.24%). Autosomal trisomies were the predominant chromosomal abnormalities with a frequency of 48.8%. Structural chromosomal abnormalities were infrequent in conception materials. The mean age of the mothers was highest in trisomy group, the difference being significantly important (ANOVA p< 0.001). The most frequent chromosomal abnormalities were Turner syndrome, triploidy and trisomy of chromosome 16 followed by trisomy of chromosomes 22 and 21 and tetraploidy. Double trisomies and structural chromosomal abnormalities were rare. Trisomies were more frequent in advanced maternal age. Conclusion:Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. Detection of structural chromosomal abnormalities in the cases and their carrier parents can provide proper genetic counseling to these families. These families can be directed towards pre-implantation genetic diagnosis to prevent further pregnancies with complications.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

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Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

View full text Add to dashboard Cite

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“…22,[24][25][26] It is therefore particularly important that any diagnostic technique has low failure and high accuracy with as few false normal and abnormal results as practicable. In addition to the limitations of any genetic testing technology, mosaicism will also lead to inaccurate results although, as seen in our study and others, 23,27 the majority of mosaic embryos have only abnormal cells, which mitigates the extent of the error.…”

Section: Discussionmentioning

confidence: 99%

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

et al. 2013

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Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were Btwice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an B50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.

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“…Thus, in translocations in which one of the derivative chromosomes is small, as found in our patient, 3: 1 segregation is more likely to occur than the other segregation models [Daniel, 1979]. Besides, the incidence of a 3: 1 segregation is relatively higher in reciprocal translocations associated with acrocentric chromosomes [Lim et al, 2008], and there is a predisposition for a 3: 1 segregation in oogenesis [Mackie Ogilvie and Scriven, 2002].…”

Section: Resultsmentioning

confidence: 78%

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

Bellucco¹,

Fock²,

Oliveira-Júnior³

et al. 2018

Cytogenet Genome Res

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Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.

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Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes

Cited by 46 publications

References 32 publications

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

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