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

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

Hematopathology

A 59-year-old man with a history of HIV presented with a 6 cm mass involving the left palatine tonsil. Biopsy of the mass showed the histologic findings seen below. Initial immunohistochemical stains including pankeratin, p63, and S100 were negative.

Additional immunohistochemical stains revealed the following immunophenotype:

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Rosalind Sharain, M.D.
Fellow, Cytopathology
Mayo Clinic
Linda Dao, M.D.
Consultant, Anatomic Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine

Dermatology Pathology

The patient is a 59-year-old man with a 12-month history of progressive erythematous and non-pruritic skin rashes (Figure 1) associated with arthralgias, neuropathy, nasal congestion, and loss of eyebrow hair. On physical exam, the patient had demonstrable paresthesias in the distribution of the rash. The patient was born in the United States but had an extensive international travel history, including trips to western Mexico within the past 10 to 15 years. The histopathologic findings are shown in Figure 2 (H&E) and Figure 3 (Fite stain).

Figure 1: Clinical image showing the rash on the patient’s face and neck.
Figure 2: Hematoxylin and eosin-stained skin biopsy (40x original magnification).
Figure 3: Fite stain (400x original magnification).

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Elise Venable, M.B.B.S.
Resident, Anatomic and Clinical Pathology
Mayo Clinic
Bobbi Pritt, M.D.
Consultant, Clinical Microbiology
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
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