Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.
Aug 21, 2018
Author information: 1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Abstract Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family, where the non-affected father and daughter were found, using […]