Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history

Priya, Pritti K; Mishra, Vineet; Liehr, Thomas; Ziegler, Monika; Tiwari, Ashutosh; Patel, Alpesh; Chettiar, Shiva Shankar; Patel, Hetvi

doi:10.1007/s10815-018-1117-5

Cited by 1 publication

(2 citation statements)

References 24 publications

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“…Such clinical abnormalities are caused by microdeletions or microduplications near translocation breakpoints, gene disruptions and positional effects located at breakpoints or elsewhere in the genome [ 8 ]. Additionally, the likelihood of phenotypic abnormalities increases with the number of CCR-associated breakpoints [ 3 ].…”

Section: Prefacementioning

confidence: 99%

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A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

Luo

Zhang

et al. 2022

Mol Cytogenet

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Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy and childbirth. In this study, we report a patient with a history of adverse pregnancy and childbirth who exhibited complex balanced chromosomal translocations. The female patient was phenotypically and intellectually normal; in her first pregnancy, the embryo was damaged, and a histological examination of the chromosomes of the embryos revealed a deletion of approximately 4.66 Mb at 1p32.3p32.2, a duplication of approximately 1.02 Mb at 1p22.2p22.1, a duplication of approximately 1.46 Mb at 6q27 and a deletion of approximately 7.78 Mb at 9p24.3p24.1. Chromosomal examinations of the patient revealed the karyotype to be 46,XX,(1;9)(p32; p34). In the second pregnancy, the foetus was diagnosed prenatally with three or more positive ultrasound soft indicators. The patient's karyotype was re-examined and further confirmed by fluorescence in situ hybridisation as 46,XX,t(1;9;6)(p31;p22;q27), revealing this patient was a carrier of complex balanced chromosomal translocations. Carriers of CCR have a higher risk of spontaneous abortion, and genetic counselling clinicians should consider the karyotype analyses of such patients in clinical practice and recheck their chromosomes if necessary.

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Section: Prefacementioning

confidence: 99%

“…Complex chromosomal rearrangement (CCR) is a rare structural chromosomal abnormality characterised by three or more breakpoints on two or more chromosomes accompanied by inter-or intra-chromosomal singlesegment insertions or translocations, etc. [1][2][3]. As a rare structural recombination, CCR can be balanced or unbalanced [4,5].…”

Section: Prefacementioning

confidence: 99%

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

Luo

Zhang

et al. 2022

Mol Cytogenet

View full text Add to dashboard Cite

show abstract

Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history

Cited by 1 publication

References 24 publications

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes

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