Article
A rare example of germ-line chromothripsis resulting in large genomic imbalance.
Clinical dysmorphology - 1 Apr 2016
Anderson Sarah E, Kamath Arveen, Pilz Daniela T, Morgan Sian M
Abstract excerpt
Chromothripsis is a recently described 'chromosome catastrophe' phenomenon in which multiple genomic rearrangements are generated in a single catastrophic event. Chromothripsis has most frequently been associated with cancer, but there have also been rare reports of chromothripsis in patients with developmental disorders and congenital anomalies. In contrast to the massive DNA loss that often accompanies...
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