Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations

Zhang, Lei; Wei, Daimin; Zhu, Ying; Jiang, Wenjie; Xia, Mingdi; Li, Jing; Yan, Junhao; Chen, Zi‐Jiang

doi:10.1093/humrep/dey367

Cited by 28 publications

(32 citation statements)

References 48 publications

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“…For carriers of balanced translocations, the normal divalent structure of the germ cell in the first meiotic division will be replaced by a trivalent (non-homologous Robertson translocation), a tetravalent (reciprocal), or a monovalent (homologous Robertson translocation) [13,14], thus allowing the production of gametes of various types with different chromosomal components. In theory, 14 kinds of gametes can be produced by mutual translocation, and 6 kinds of gametes can be produced by non-homologous Robertson translocation.…”

Section: Discussionmentioning

confidence: 99%

“…In theory, 14 kinds of gametes can be produced by mutual translocation, and 6 kinds of gametes can be produced by non-homologous Robertson translocation. Among the gametes carried by these two types of carriers, only 1 kind of normal gametes, 1 kind of balanced translocation, and the rest are unbalanced gametes [13,14]. Due to the diversity and randomness of gametes' chromosome composition, the pregnancy outcomes of balanced translocation carriers vary greatly, not only among different translocation types, but also among the pregnancies of each carrier.…”

Section: Discussionmentioning

confidence: 99%

“…In the case, the three pregnancies of the women had similar genotypes and CNVs, and the defects showed a certain similarity, which suggested that the pregnancy outcomes for carriers with balanced translocations occured repeatedly, and the manifestations of the defective children show some similarity, which implies the similarity of their abnormal karyotypes. The preference for the formation of an abnormal product in meiosis may be related to the specific chromosome involved in translocations and the location of the fracture points [14,15].…”

Section: Discussionmentioning

confidence: 99%

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Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Zhang

Zhang²,

Liu³

et al. 2020

Preprint

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Abstract Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. After fertilization of a balanced translocation carrier with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformatio. We reported a woman with balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation Routine G banding was used to analyze the chromosome karyotypes of amniotic fluid, pregnant women and her son in peripheral blood, and then the chromosomal abnormalities were precisely located by CNV-seq detection. The karyotype of the women was 46,XX,t(4;5)(q33;p15). The karyotypethe of the boy was 46,XY,add(5)(p14). CNV-seq was used for further analysis of the structural chromosomal rearrangement in the boy.The results were shown a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. Amniocentesis was performed at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,add(5)(p14). Further detection of chromosomal aberrations by CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Conclusions Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Zhang

Zhang²,

Liu³

et al. 2020

Preprint

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“…Eggs from women with balanced translocations can show several types of nuclear contents: normal, balanced or unbalanced karyotype. For carriers of balanced translocations, the normal divalent structure of the germ cell in the rst meiotic division will be replaced by a trivalent (non-homologous robertsonian translocation), a tetravalent (reciprocal), or a monovalent (homologous robertsonian translocation) [13,14], thus allowing the production of gametes of various types with different chromosomal components. The balanced translocation carrier of two chromosomes can form a quadrivalent in meiosis, which can produce various gametes according to the different ways of segregation.…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Zhang¹,

Zhang²,

Liu³

et al. 2020

Preprint

View full text Add to dashboard Cite

Abstract Background：Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation：We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions：Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

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“…In most cases the carriers are phenotypically normal but are at a significantly increased risk of infertility, miscarriage, fetal developmental delay. It is also associated with an elevated risk of chromosomal abnormalities among offspring, as a result of the formation of unbalanced gametes during meiosis [13]. PGT-SR ensures the selection of balanced/normal embryos and thus prevents the transmission of unbalanced chromosomal rearrangements to the offspring [14].…”

Section: Introductionmentioning

confidence: 99%

Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

Staykova

Staneva

Stamenov³

et al. 2019

Biotechnology & Biotechnological Equipment

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Preimplantation genetic testing (PGT) is presently the only option available for detecting genetic conditions in embryos created through in vitro fertilization (IVF) prior to implantation. Thus PGT eliminates the dilemma of pregnancy termination following unfavorable prenatal diagnosis test results. Complex chromosome rearrangements (CCRs), although very rarely reported in humans, represent a significant clinical problem for their carriers. CCRs include at least three breakpoints affecting two or more chromosomes. In three-breakpoint translocations, theoretically sixty-four different chromosomal sets are produced. Only two of them will be balanced and will lead to the birth of a phenotypically normal child. Therefore, CCR carriers are at increased risk of chromosomally unbalanced conceptions, resulting in spontaneous abortions or birth of offspring with intellectual disability and/or congenital anomalies. The reproductive options before such families are: natural conception followed by prenatal diagnosis; donor gametes; adoption or PGT. In this paper we discuss the current state of the PGT field and report on two PGT-cases for CCR in families with infertility and recurrent pregnancy losses. The families underwent IVF-PGT on day 3 and day 5 embryos and whole genome microarray analysis. ARTICLE HISTORY

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Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations

Cited by 28 publications

References 48 publications

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

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