Unbalanced segregation of balanced chromosomal rearrangements causes neurodevelopmental anomalies in the fetus, while carriage of balanced translocation
does not lead to any phenotypic effect on the prospective parents.
3,4) Nonetheless, the coexistence of balanced translocation
, gonadal dysgenesis, and tall stature in association with t(X;1) translocation has been rarely described in the literature.
This meant that the male partner was a carrier of a balanced translocation
involving chromosomes 5, 8 and 12.
Doctors told Lynn she was suffering from a balanced translocation
, a genetic condition which meant she could struggle to carry a baby full term.
For example, given 100X genome coverage, a commonly observed fetal fraction of 10% (11), and a perfectly balanced translocation
event, one would expect 10 (adjusted for diploid genome and 2 reciprocal breakpoint events) of the billions of ccf DNA fragments to contain the breakpoint.
EMC shows a balanced translocation
Brian Mariani, scientific director of the Genetics and IVF Institute where the PicoPLEX DNA-seq Kits were tested, the sequencing data from the PicoPLEX DNA-seq libraries of embryo DNA detected a male balanced translocation
that had not been identified by prior microarray and FISH analyses.
Also, if chromosomal testing demonstrates a certain karyotype, such as a translocation, then microarray testing is the best approach for determining if it is a balanced translocation
Based on these results, they suggested activation of a growth promoting gene through balanced translocation
as the pathogenic mechanism.
The most common chromosome abnormality in RM couples is a balanced translocation
, including reciprocal and Robertsonian translocations, which allow a normal parental phenotype but chromosomally unbalanced gametes.
But they also revealed she had a chromosome disorder called balanced translocation
, which affects about one in 6,000.
2 deletion, considered of maternal origin, because of a finding in the mother of a balanced translocation
6p/18p, a finding infrequently reported (1).