Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek chromo for chromosome and anagenesis for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms chromothripsis and chromoanasynthesis and the challenge of genetic counseling are discussed.

Automated summary

The use of new technologies has revealed new mechanisms for structural variation in the human genome, such as the phenomenon of chromothripsis, posing challenges for genetic counseling.