November 2018 — Clinical Pathology

A child was born with features consistent with Down syndrome. Karyotype results were 46,XY,der(21;21)(q10;q10),+21, supporting the clinical diagnosis. Parental chromosomal analysis was completed as a follow-up. The mother’s karyotype was normal, and the father’s karyotype is shown in the image.


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Nicole Boczek, Ph.D.
Fellow, Cytogenetics
Mayo Clinic
Nicole Hoppman, Ph.D.
Consultant, Laboratory Genetics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

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