Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Ping, He; Wei, Xiaoni; Xu, Yuchan; Huang, Jiling; Tang, Ning; Yan, Tizhen; Yang, Chuanchun; Lu, Kangmo

doi:10.21203/rs.3.rs-1402523/v1

Cited by 1 publication

(2 citation statements)

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“…In this study, we applied multiple techniques to reveal the complicated breakages and fusions of the chromosomes. Karyotyping could not identify submicroscopic rearrangements (< 5 Mb), while CMA could not detect balanced translocations [4,5]. FISH analysis needs specific probes and complex procedures.…”

Section: Discussionmentioning

confidence: 99%

“…About 70% CCR carriers are phenotypically normal, but they have a high risk of recurrent miscarriage, subfertility or infertility, and pregnancy abnormalities due to conceiving offspring with unbalanced CCRs [1,4,5]. With the development of cytogenetic and molecular techniques, more complex and cryptic chromosomal imbalances have been revealed [6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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Identification of a familial complex chromosomal rearrangement by optical genome mapping

Yang

Wang

2022

Mol Cytogenet

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Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion. With the development of cytogenetic and molecular genetic techniques, some chromosomal rearrangements that were initially considered to be simple reciprocal translocations in the past might eventually involve more complex chromosomal rearrangements. Case presentation In this case, a pregnant woman, who had a spontaneous abortion last year, had abnormal prenatal test results again in the second pregnancy. Applying a combination of genetic methods including karyotype analysis, chromosomal microarray analysis, fluorescence in situ hybridization and optical genome mapping confirmed that the pregnant woman was a carrier of a CCR involving three chromosomes and four breakpoints, and the CCR was paternal-origin. Her first and second pregnancy abnormalities were caused by chromosomal microdeletions and microduplications due to the malsegregations of the derivative chromosomes. Conclusions We presented a rare familial CCR involving three chromosomes and four breakpoints. This study provided precise and detailed information for the subsequent reproductive decision-making and genetic counselling of the patient.

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Section: Discussionmentioning

confidence: 99%