Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

Thomas Liehr,Isolde Schreyer,Alma Kuechler,Emmanouil Manolakos,Sylke Singer,Andreas Dufke,Kathleen Wilhelm,Tereza Jančušková,Radek Čmejla,Moneeb A K Othman,Ahmed H Al-Rikabi,Kristin Mrasek,Monika Ziegler,Stefanie Kankel,Katharina Kreskowski,Anja Weise

Molecular cytogenetics（2019）

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摘要

The new, here suggested three color FISH approach is suited for more comprehensive parental studies of patients with MMS. The detection rate for parental origin was increased by 140% in this study. Still, for 30/81 cases (37%) no reason for the 'de novo' MMS in the affected index patient could be found by the here suggested FISH-probe set.

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关键词

Copy number variants (CNVs),Deletion,Duplication,Inversion,Microdeletion/microduplication syndromes (MMSs),Three color fluorescence in situ hybridization (FISH)

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