Molecular Genetic Pathology

1-day-old female born with omphalocel, macroglossia, and enlarged kidneys.

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Photo of     Julie Y. Li, B.Med., Ph.D.   Julie Li, B.Med., Ph.D.
Fellow, Molecular Genetic Pathology
Mayo Clinic
Photo of Matthew J. Ferber, Ph.D. Matthew Ferber, Ph.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

Cytogenetics

A 30-year-old woman suffers a miscarriage, and the product of conception is sent for cytogenetic testing to rule out cytogenetic abnormalities. A chromosomal microarray performed on placental tissue reveals large events on chromosome 8, a deletion of distal p-arm material, and duplication of the proximal p-arm through the distal q-arm. Banded chromosomal analysis was then performed on cultured cells from the original specimen. 1/18 cells showed an isodicentric chromosome 8 while remaining 17/18 cells were 46,XX.

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Photo of Matthew Schultz, Ph.D. Matthew Schultz, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Erik Thorland, Ph.D.
Erik Thorland, Ph.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

Gynecological Pathology

A 60-year-old woman presented for evaluation of hirsutism. She was found to have an elevated total testosterone level of 331 ng/dL(reference range 8-60 ng/dL) and androstenedione level of 276 ng/dL (reference range 30-200 ng/dL). Her DHEA sulfate was normal at 69.4 mcg/dL (reference range <15-157 mcg/dL) and TSH was normal at 2.5 mIU/L (reference range 0.3-4.2mIU/L). Imaging studies identified an enlarged left ovary with a small amount of free fluid, measuring 3.4 cm. There was no imaging evidence of extraovarian disease and the contralateral ovary was normal. She underwent bilateral salpingo-oophorectomy. See below for gross and microscopic images.

Case presentation for November Pathways Case Studies
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Photo of Prasuna Muppa, M.B.B.S. Prasuna Muppa, M.B.B.S.
Resident, Anatomic and Clinical Pathology
Mayo Clinic
@DrPrasunaMuppa
Photo of J. Kenneth Schoolmeester, M.D.
J. Kenneth Schoolmeester, M.D.
Consultant, Anatomic Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

Genetics

α-globin gene analysis testing was performed on a 30-year-old man with unknown clinical history. Gene dosage was assessed using multiplex ligation-dependent probe amplification (MLPA). Multiplex PCR and gel electrophoresis were performed to detect the common -3.7 kb and -4.2 kb deletions. The test results and location of MLPA probes within the alpha-globin gene cluster are shown below.

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Photo of Rachael A. Vaubel, M.D., Ph.D. Rachael Vaubel, M.D., Ph.D.
Senior Associate Consultant, Anatomic Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
Photo of Kandelaria (Ande) Rumilla, M.D.
Kandelaria (Ande) Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
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MCL Education

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