Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement

Zhang, Yanliang; Dai, Yong; Tu, Zhiguang; Li, Qiyun; Zhang, Li; Wang, Linqian

doi:10.1007/s12041-009-0056-4

Cited by 10 publications

(8 citation statements)

References 18 publications

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“…omplex chromosomal rearrangements (CCRs) are balanced or unbalanced structural aberrations involving at least three chromosomal breakpoints and chromosome segment exchanges between two or more chromosomes (1)(2)(3)(4)(5)(6). They are extremely rare in the entire population (7), with a $0.5% occurrence in newborns (8).…”

mentioning

confidence: 99%

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases

Wei

Luo

et al. 2018

Fertility and Sterility

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mentioning

confidence: 99%

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases

Wei

Luo

et al. 2018

Fertility and Sterility

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“…Some chromosomes, including 2, 3, 4, 7, and 11, are more frequently implicated in CCR than would be expected. This is the first CCR case to involve chromosomes 4, 5, 6, and 8 [ 16 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report

Tian

Liu

et al. 2017

Mol Cytogenet

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BackgroundComplex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints.Case presentationHere, we describe a four-way CCR involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic abnormalities during his development, including defects in his eyes and teeth, exomphalos and asthenozoospermia. His wife had two spontaneous abortions during the first trimester. The translocations in 4q27, 5q22, 6q22.3, and 8p11.2 were diagnosed by conventional cytogenetic analysis and confirmed by fluorescence in situ hybridization(FISH). After analysis using a SNP array, we defined three microdeletions, including 0.89 Mb on chromosome 4, 5.39 Mb on chromosome 5 and 0.43 Mb on chromosome 8. His mother had a chimera karyotype of 47, XXX[5]/45, X[4]/46, XX[91]; the other chromosomes were normal. After one cycle of in vitro fertility (IVF) treatment followed by preimplantation genetic diagnosis (PGD), they obtained two embryos, but neither was balanced.ConclusionsThe patient’s phenotype resulted from the CCR and microdeletion of chromosomes 4, 5 and 8. The couple decided to use artificial insemination by donor (AID) technology.

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“…The majority of documented CCR cases involve maternal transmission, indicating that human oogenesis is able to cope with the complexity of CCRs and produce phenotypically normal children. Most female CCR carriers are identified due to advanced maternal age, repeated spontaneous abortions, or birth of a child with a genetic abnormality [21]. The majority of reported CCRs in males are detected due to infertility problems [22,23].…”

Section: Ccrs: Mechanisms Of Generation and Transmissionmentioning

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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Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement

Cited by 10 publications

References 18 publications

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases

Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases

A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report

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

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