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Related to robertsonian translocation: mosaicism
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We have thus demonstrated for the first time that Down syndrome due to unbalanced robertsonian translocation can be detected by sequencing maternal plasma DNA.
In the present study, we report a Robertsonian translocation rob (14; 15) in a female patient with a history of repeated abortions.
It involves methods of assay, including polymerase chain reaction and fluorescent in-situ hybridization, which are used to observe genetic abnormalities associated with monogenetic diseases like Huntington's and chromosomal abnormalities including Robertsonian translocations.