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Updated: Jul 4, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Identification and interruption of inheritance of familial cryptic translocations: A case report
Jian Ou1, Jian Sun1, Chuan-Chun Yang2
1Center for Reproduction and Genetics, The affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China.
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.
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