ArticleMolecular genetics & genomic medicine2024
Identification and interruption of inheritance of familial cryptic translocations: A case report.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 2 citations in OpenAlex.
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.NPJ genomic medicine · 2025Article
- Identification and interruption of inheritance of familial cryptic translocations: A case report.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundCryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre-implantation genetic testing, that seeks to block familial transmission of translocations.
methodsHere, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole-genome, low-coverage mate-pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations.
resultsCryptic translocations were found in all four families, and familial transmission was successfully blocked in one family.
conclusionWhole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.
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