Inverted duplication, triplication and quintuplication through sequential breakage ‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion

ConclusionThis is the first case reported in POC with a unique mosaic pattern and discordant chromosome and aCGH results. Caution should be applied in reporting and interpreting these discordant results and further analysis for underlying mechanism should be considered.

Source: Molecular Genetics & Genomic Medicine - September 1, 2019 Category: Genetics & Stem Cells Authors: Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Jiadi Wen, Pei Hui, Peining Li Tags: ORIGINAL ARTICLE Source Type: research