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Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping

16 Jun 2022

Abstract excerpt

BACKGROUND: Chromosomal rearrangements have profound consequences in diverse human genetic diseases. Currently, the detection of balanced chromosomal rearrangements (BCRs) mainly relies on routine cytogenetic G-banded karyotyping. However, cryptic BCRs are hard to detect by karyotyping, and the risk of miscarriage or delivering abnormal offspring with congenital malformations in carrier couples is significantly...

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Share to Chromosomal and Genetic Variations
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PMID: 35710108
DOI: 10.1136/jmedgenet-2022-108553

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