Case Studies

1-day-old female born with omphalocel, macroglossia, and enlarged kidneys. Julie Li, B.Med., Ph.D.Fellow, Molecular Genetic PathologyMayo Clinic Matthew Ferber, Ph.D.Consultant, Laboratory Genetics and GenomicsMayo ClinicAssociate[...]

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[...]

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[...]

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[...]

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for October include the following sub-specialties: Cytogenetics, Endocrine, Gastrointestinal, Neuropathology, and Transfusion Medicine.

A 65-year-old woman had a 12 year progressive history of ascending numbness and tingling of the left, then right side of her body. Multiple physicians[...]

A 61-year-old male developed flu-like symptoms with persistent cough. He had an episode of hemoptysis and presented for evaluation in the clinic. A chest x-ray[...]

A 32-year-old G1P0 woman has an initial type and screen at her first prenatal appointment. She is B positive and her antibody screen is negative.[...]

A 64-year-old man was found to have an incidental liver mass on ultrasonography during a work-up for chronic kidney disease. He had a history of[...]

A woman in her 60s presents with a mass in the left lobe of the thyroid and lymph node metastases. Upon thyroidectomy, the tumor histologically[...]

A 52-year-old woman presents with progressive numbness involving the right side of her face and tongue, diplopia, swallowing difficulty, and gait instability. She has an[...]

Mayo Clinic laboratory experts share five case studies in this month’s “PathWays” post and are challenging you to test your laboratory genetics & genomics, bone & soft tissue, renal, infectious disease, and gastroenterology pathology knowledge. Review the cases, take the quizzes, and learn how the correct diagnoses were made.

23-year-old male with an isolated soft tissue mass on the back measuring 1.5 cm.The mass is centered in the dermis and extending into the underlying[...]