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Article

Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation

1 Jan 2022

Abstract excerpt

We performed optical genome mapping (OGM), a newly developed cytogenetic technique, for a patient with a disorder of sex development (DSD) and a 46,XX,t(9;11)(p22;p13) karyotype. The results of OGM were validated using other methods. OGM detected a 9;11 reciprocal translocation and successfully mapped its breakpoints to small regions of 0.9-12.3 kb. OGM identified 46 additional small structural variants, only...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 37231804
DOI: 10.1159/000531103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

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