November 2018 — Molecular Diagnostic

A 13-month-old female infant was referred for delayed milestones, atrial septal defect, low-set ears, mild hypertelorism, and iridal coloboma. Chromosome analysis was performed, which showed a 47,XX,+mar karyotype (Figure 1A), with a small bisatellited supernumerary marker chromosome. Slides were stained with DAPI, and the marker was DAPI negative (Figure 1B). A chromosomal microarray was performed, which revealed four copies of proximal 22q.

This quiz is no longer available.
Patrick Blackburn, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Hutton Kearney, Ph.D.
Consultant, Laboratory Genetics/Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

MCL Education

This post was developed by our Education and Technical Publications Team.