Fig 1 - available from: Molecular Cytogenetics
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a Mug shot of the patient. b Exomphalos of the patient. c Two central incisors were congenitally lost as implant; the lower right primary canine was retained. d The lower left permanent canine was congenitally missing
Source publication
Background:
Complex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints.
Case presentation:
Here, we describe a four-way CCR involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic abnormalities during his development, inclu...
Citations
... Frumkin T et al. reported a couple in which the husband was a three-way rearrangements carrier with one PGT cycle, who had 2 euploid embryos and 5 abnormal embryos [12]. Chan Tian et al. reported a couple in which the male partner was an exceptional CCR carrier with one PGT cycle, who had no euploid embryos and 2 aneuploid embryos [13]. E. Vanneste et al. reported a couple in which the husband was an exceptional CCRs carrier with two PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [14]. ...
Background:
Balanced complex chromosome rearrangements (BCCR) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population. The objective is to explore the difference of influence of three types of BCCR on early embryonic development and molecular karyotype.
Results:
Twelve couples were recruited including four couples of three-way rearrangements carriers (group A), three couples of double two-way translocations carriers (group B) and five couples of exceptional CCR carriers (group C). A total of 243 oocytes were retrievedin the seventeen preimplantation genetic testing (PGT) cycles, and 207 of these were available for fertilization. After intracytoplasmic sperm injection, 181oocytes normally fertilized. The rates of embryos forming on day3 in three groups were 87.88, 97.78 and77.14%, which was significantly different (P = 0.01). Compared with group B, the rate of embryo formation was statistically significantly lower in group C (P = 0.01). Furthermore, the rates of high-quality blastocysts in three group were 14.71, 48.15 and 62.96%, respectively, which was significantly different (P = 0.00). Compared with group B andC, the rate of high-quality blastocysts in group A was statistically significantly lower (P = 0.00;P = 0.00). Comprehensive chromosome analysis was performed on 83 embryos, including 75 trophectodermcellsand 8 blastomeres. Except 7 embryos failed to amplify, 9.01%embryos were diagnosed as euploidy, and 90.91% were diagnosed as abnormal. As for group A, the euploid embryo rate was 10.71%and the abnormal embryo rate was 89.29%. In group B,the euploid embryo rate was 3.85%, the abnormal embryo rate was 96.15%. The euploid embryo rate was 13.04%, the abnormal embryo rate was 86.96% in group C. There were no significant differences among the three groups (P = 0.55).
Conclusions:
The lowest rate of high quality blastocysts has been for three-way rearrangements and the lowest rate of euploidy has been for double two-way translocations, although no significant difference. Different types of BCCR maybe have little effect on the embryonic molecular karyotype. The difference of influence of BCCR on early embryonic developmentandmolecular karyotypeshould be further studied.
... reported a couple in which the male partner was an exceptional CCR carrier with one PGT cycle, who had no euploid embryos and 2 aneuploid embryos [13] . E. Vanneste et al. reported a couple in which the husband was an exceptional CCRs carrier with two PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [14] . ...
Background: Balanced complex chromosome rearrangements (BCCR) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population.The objective is to explore the difference of influence of three types of BCCR on early embryonic development and molecular karyotype.
Results:Twelve couples were recruited including four couples of three-way rearrangements carriers (group A), three couples of double two-way translocations carriers (group B) and five couples of exceptional CCR carriers (group C). A total of 243 oocytes were retrievedin the seventeen preimplantation genetic testing (PGT) cycles, and 207 of these were available for fertilization.After intracytoplasmic sperm injection, 181oocytes normally fertilized. The rates of embryos forming on day3 in three groups were 87.88%, 97.78% and77.14%, which was significantly different (P=0.01). Compared with group B, the rate of embryo formation was statistically significantly lower in group C(P=0.01).Furthermore, the rates of high-quality blastocysts in three group were 14.71%, 48.15% and 62.96%, respectively, which was significantly different (P=0.00). Compared with group B andC, the rate of high-quality blastocysts in group A was statistically significantly lower (P=0.00;P=0.00).
Comprehensive chromosome analysis was performed on 83 embryos, including 75 trophectodermcellsand 8 blastomeres. Except 7 embryos failed to amplify, 9.01%embryos were diagnosed as euploidy, and 90.91% were diagnosed as abnormal. As for group A, the euploid embryo rate was 10.71%and the abnormal embryo rate was 89.29%. In group B,the euploid embryo rate was 3.85%, the abnormal embryo rate was 96.15%. The euploid embryo rate was 13.04%, the abnormal embryo rate was 86.96% in group C.There were no significant differences among the three groups (P = 0.55).
Conclusions:The lowest rate of high quality blastocysts has been for three-way rearrangements and the lowest rate of euploidy has been for double two-way translocations, although no significant difference. Different types of BCCR maybe have little effect on the embryonic molecular karyotype. The difference of influence of BCCR on early embryonic developmentandmolecular karyotypeshould be further studied.
... Copy number variations (CNVs) are a particular subtype of SVs mainly represented by deletions and duplications (reviewed in Carvalho and Lupski [4]). SVs are typically described as single events, although more complex scenarios involving combinations of SV types exist [5,6]. Chromothripsis, which is a large and complex combination of rearrangements reported in cancer [7], is an example. ...
Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational methods for each approach.
... Frumkin T et al. reported a couple in which the husband was a three-way rearrangements carrier with one PGT cycle, who had 2 euploid embryos and 5 abnormal embryos [12] . Chan Tian et al. reported a couple in which the male partner was an exceptional CCR carrier with one PGT cycle, who had no euploid embryos and 2 aneuploid embryos [13] . E. Vanneste et al. reported a couple in which the husband was an exceptional CCRs carrier with two PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [14] . ...
Background: Balanced complex chromosome rearrangements (BCCR) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population. The objective is to explore the difference of influence of three types of BCCR on early embryonic development and molecular karyotype. Results: Twelve couples were recruited including four couples of three-way rearrangements carriers (group A), three couples of double two-way translocations carriers (group B) and five couples of exceptional CCR carriers (group C). A total of 243 oocytes were retrieved in the seventeen preimplantation genetic testing (PGT) cycles, and 207 of these were available for fertilization. After intracytoplasmic sperm injection, 181 oocytes normally fertilized.The rates of embryos forming on day3 in three groups were 87.88%, 97.78% and 77.14%, which was significantly different (P=0.01). Compared with group B, the rate of embryo formation was statistically significantly lower in group C (P=0.01). Furthermore, the rates of high-quality blastocysts in three group were 14.71%, 48.15% and 62.96%, respectively, which was significantly different (P=0.00). Compared with group B and C, the rate of high-quality blastocysts in group A was statistically significantly lower (P=0.00; P=0.00). Comprehensive chromosome analysis was performed on 83 embryos, including 75 trophectoderm cells and 8 blastomeres. Except 7 embryos failed to amplify, 9.01% embryos were diagnosed as euploidy, and 90.91% were diagnosed as abnormal. As for group A, the euploid embryo rate was 10.71% and the abnormal embryo rate was 89.29%. In group B, the euploid embryo rate was 3.85%, the abnormal embryo rate was 96.15%. The euploid embryo rate was 13.04%, the abnormal embryo rate was 86.96% in group C. There were no significant differences among the three groups (P = 0.55). Conclusions: The double two-way translocations couples have more chance to get balanced or normal embryos probably, and there may be more high-quality blastocysts in exceptional CCRs, but the blastocyst formation rate was similar among the three type of BCCR. Different types of BCCR maybe have little effect on the embryonic molecular karyotype. The difference of influence of BCCR on early embryonic development and molecular karyotype should be further studied.
... Frumkin T et al. reported a couple in which the husband was a three-way rearrangements carrier with one PGT cycle, who had 2 euploid embryos and 5 abnormal embryos [12] . Chan Tian et al. reported a couple in which the male partner was an exceptional CCR carrier with one PGT cycle, who had no euploid embryos and 2 aneuploid embryos [13] . E. Vanneste et al. reported a couple in which the husband was an exceptional CCRs carrier with two PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [14] . ...
Background: Balanced complex chromosome rearrangements (BCCR) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population.The objective is to explore the difference of influence of three types of BCCR on early embryonic development and molecular karyotype.
Results:Twelve couples were recruited including four couples of three-way rearrangements carriers (group A), three couples of double two-way translocations carriers (group B) and five couples of exceptional CCR carriers (group C). A total of 243 oocytes were retrievedin the seventeen preimplantation genetic testing (PGT) cycles, and 207 of these were available for fertilization.After intracytoplasmic sperm injection, 181oocytes normally fertilized. The rates of embryos forming on day3 in three groups were 87.88%, 97.78% and77.14%, which was significantly different (P=0.01). Compared with group B, the rate of embryo formation was statistically significantly lower in group C(P=0.01).Furthermore, the rates of high-quality blastocysts in three group were 14.71%, 48.15% and 62.96%, respectively, which was significantly different (P=0.00). Compared with group B andC, the rate of high-quality blastocysts in group A was statistically significantly lower (P=0.00;P=0.00).
Comprehensive chromosome analysis was performed on 83 embryos, including 75 trophectodermcellsand 8 blastomeres. Except 7 embryos failed to amplify, 9.01%embryos were diagnosed as euploidy, and 90.91% were diagnosed as abnormal. As for group A, the euploid embryo rate was 10.71%and the abnormal embryo rate was 89.29%. In group B,the euploid embryo rate was 3.85%, the abnormal embryo rate was 96.15%. The euploid embryo rate was 13.04%, the abnormal embryo rate was 86.96% in group C.There were no significant differences among the three groups (P = 0.55).
Conclusions:The lowest rate of high quality blastocysts has been for three-way rearrangements and the lowest rate of euploidy has been for double two-way translocations, although no significant difference. Different types of BCCR maybe have little effect on the embryonic molecular karyotype. The difference of influence of BCCR on early embryonic developmentandmolecular karyotypeshould be further studied.
... reported a couple in which the male partner was an exceptional CCR carrier with one PGT cycle, who had no euploid embryos and 2 aneuploid embryos [13] . E. Vanneste et al. reported a couple in which the husband was an exceptional CCRs carrier with two PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [14] . ...
Background: Balanced complex chromosome rearrangements (BCCR) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population.The objective is to explore the difference of influence of three types of BCCR on early embryonic development and molecular karyotype.
Results:Twelve couples were recruited including four couples of three-way rearrangements carriers (group A), three couples of double two-way translocations carriers (group B) and five couples of exceptional CCR carriers (group C). A total of 243 oocytes were retrievedin the seventeen preimplantation genetic testing (PGT) cycles, and 207 of these were available for fertilization.After intracytoplasmic sperm injection, 181oocytes normally fertilized. The rates of embryos forming on day3 in three groups were 87.88%, 97.78% and77.14%, which was significantly different (P=0.01). Compared with group B, the rate of embryo formation was statistically significantly lower in group C(P=0.01).Furthermore, the rates of high-quality blastocysts in three group were 14.71%, 48.15% and 62.96%, respectively, which was significantly different (P=0.00). Compared with group B andC, the rate of high-quality blastocysts in group A was statistically significantly lower (P=0.00;P=0.00).
Comprehensive chromosome analysis was performed on 83 embryos, including 75 trophectodermcellsand 8 blastomeres. Except 7 embryos failed to amplify, 9.01%embryos were diagnosed as euploidy, and 90.91% were diagnosed as abnormal. As for group A, the euploid embryo rate was 10.71%and the abnormal embryo rate was 89.29%. In group B,the euploid embryo rate was 3.85%, the abnormal embryo rate was 96.15%. The euploid embryo rate was 13.04%, the abnormal embryo rate was 86.96% in group C.There were no significant differences among the three groups (P = 0.55).
Conclusions:The lowest rate of high quality blastocysts has been for three-way rearrangements and the lowest rate of euploidy has been for double two-way translocations, although no significant difference. Different types of BCCR maybe have little effect on the embryonic molecular karyotype. The difference of influence of BCCR on early embryonic developmentandmolecular karyotypeshould be further studied.
... Frumkin T et al. reported a couple in which the husband was a three-way rearrangement carrier with 1 PGT cycle, who had 2 balanced or normal embryos and 5 abnormal embryos [14] . Chan Tian et al. reported a couple in which the male partner was an exceptional CCR carrier with 1 PGT cycle, who had no balanced or normal embryos and 2 abnormal embryos [15] . E. Vanneste et al. reported a couple in which the husband was an exceptional CCR carrier with 2 PGT cycles, who had 4 balanced or normal embryos and 12 abnormal embryos [16] . ...
Background: Balanced complex rearrangements (BCCRs) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population. Whether the couple of BCCRs benefit from preimplantation genetic testing (PGT) need to be further explored. Here, we reported the outcome of PGT in BCCRs carriers. Results: A total of 141 oocytes were retrieved from 7 couples within 10 PGT cycles, including 116 mature oocytes (MII), and 94 (81.03%) oocytes normally fertilized after intracytoplasmic sperm injection (ICSI). Then, 47 embryos were biopsied, including 8 embryos at the cleavage stage and 39 (41.49%) blastocysts. After comprehensive chromosome analysis, the balanced or normal embryo rate was 11.36% (5), the abnormal embryo rate was 88.63% (39), and 3 failed to amplify. Among them, the balanced or normal embryo rate was 33.33% (3) and the abnormal embryo rate was 66.67% (6) in the three-way rearrangements. The balanced or normal embryo rate was 5.6% (1) and the abnormal embryo rate was 94.4% (17) in double two-way translocations. The balanced or normal embryo rate was 5.9% (1) in exceptional CCRs, and the abnormal embryo rate was 94.1% (16). There were no significant differences among the three groups (P=0.11). In the 10 PGT cycles, there were 7 cycles in which no embryo could be transplanted and 3 cycles in which balanced or normal embryos underwent frozen-thawed embryo transplantation. One of the 3 cycles was clinically pregnant, and the prenatal diagnosis of amniocytes using G-band and SNP array at 16 weeks of gestation was 46, XN, and a boy was born alive and healthy. Conclusions: BCCR carriers have a high rate of obtaining abnormal embryos, but they can also have healthy offspring. For BCCR carriers with fertility needs, PGT is recommended to have related offspring, or they can choose sperm donor or ovum donation-assisted reproduction.
