Pathways Case Studies: November 2019

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

	Julie Li, B.Med., Ph.D. Fellow, Molecular Genetic Pathology Mayo Clinic
	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

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.

	Matthew Schultz, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic
	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

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.

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

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.

	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
	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