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.
|Patrick Blackburn, Ph.D.
Fellow, Laboratory Genetics and Genomics
|Hutton Kearney, Ph.D.
Consultant, Laboratory Genetics/Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine