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