November 2019 — Cytogenetics

By MCL Education • November 13, 2019

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A 30-year-old woman suffers a miscarriage, and the product of conception is sent for cytogenetic testing to rule out cytogenetic abnormalities. A chromosomal microarray performed on placental tissue reveals large events on chromosome 8, a deletion of distal p-arm material, and duplication of the proximal p-arm through the distal q-arm. Banded chromosomal analysis was then performed on cultured cells from the original specimen. 1/18 cells showed an isodicentric chromosome 8 while remaining 17/18 cells were 46,XX.

	Matthew Schultz, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic
	Erik Thorland, Ph.D. Consultant, Laboratory Genetics and Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

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