November 2018 — Molecular Diagnostic

By MCL Education • November 6, 2018

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

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