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.

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