An example of a balanced structural change is the Philadelphia chromosome translocation previously described. In that case, although genetic information was rearranged into an abnormal gene ...

Single gene disorders, like Huntington’s disease ... the 1950s—long before the PAH-encoding gene was mapped to human chromosome 12 and cloned in 1983. Specifically, Dr. Willard Centerwall ...

[44] Combining a limited karyotype with the more objective microarray data will allow for a clearer interpretation for any disease-causing chromosome abnormalities, if any, in the fetus undergoing ...