Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement

Samantha Schilit,Avery Bell,Ross Rowsey,Abby Sassaman, Andrew Galinsky,Courtney Studwell,Heather Mason-Suares

Genetics in Medicine（2022）

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摘要

Individuals who have an intrachromosomal structural rearrangement, such as an inversion or intrachromosomal insertion, are at increased risk for conceiving a child with physical or intellectual differences. Here we discuss the potential consequences in a conceptus with a paternally inherited intrachromosomal structural rearrangement on the small (p) arm of chromosome 3.

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