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