Article

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

2026-03-10

Abstract excerpt

<h4>Summary</h4> Balanced Robertsonian translocation (ROB) is the most common chromosomal rearrangement in humans, with an estimated occurrence of 1 in 800 in newborn studies. Carriers are at increased risk of cancer and often diagnosed at fertility clinics after facing recurrent miscarriages, infertility, or aneuploid offspring. Genotyping carriers with DNA sequencing has been challenging because of gaps and mis...

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Literature Corpus work: 21a007f1-e80f-5eb6-86f5-add82b7ea456
DOI: 10.64898/2026.03.08.710242

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