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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
MCL Education

MCL Education

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