1-day-old female born with omphalocel, macroglossia, and enlarged kidneys.
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Julie Li, B.Med., Ph.D. Fellow, Molecular Genetic Pathology Mayo Clinic |
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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.
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Matthew Schultz, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic |
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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.
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Prasuna Muppa, M.B.B.S. Resident, Anatomic and Clinical Pathology Mayo Clinic @DrPrasunaMuppa |
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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.
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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 |
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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 |