Identification and interruption of inheritance of familial cryptic translocations: A case report.
Mol Genet Genomic Med
; 12(1): e2356, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-38284442
ABSTRACT
BACKGROUND:
Cryptic 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.METHODS:
Here, 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.RESULTS:
Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family.CONCLUSION:
Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Testes Genéticos
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article