A germline chromothripsis event stably segregating in 11 individuals through three generations.
Birgitte BertelsenLusine Nazaryan-PetersenWei SunMana M MehrjouyGangcai XieWei ChenLena E HjermindPeter E M TaschnerZeynep TümerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
G-CTH rearrangements are not always associated with abnormal phenotypes and may be misinterpreted as balanced two-way translocations, suggesting that G-CTH is an underdiagnosed phenomenon.Genet Med 18 5, 494-500.
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