Cytogenetics

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for July include the following sub-specialties: Breast Pathology, Clinical Microbiology, Infectious Disease Pathology, Cytogenetics, Laboratory Genetics and Genomics, and Molecular Pathology.

This "Pathways" program provides a Clinical Pathology case that includes a history, potential answers, rationale, and relevant references. This case sub-specialty is Cytogenetics, Laboratory Genetics and Genomics, and Molecular Pathology.

This "Pathways" program provides Anatomic and Clinical Pathology cases that include a history, potential answers, rationale, and relevant references. Cases for August include the following sub-specialties: Anatomic, Bone and Soft Tissue, Surgical, Cytogenetics, & Molecular, Genitourinary, Gynecological, Liver, and Molecular.

This "Pathways" program provides a Anatomic and Clinical Pathology case that includes a history, potential answers, rationale, and relevant references. This case sub-specialty is Bone and Soft Tissue, Surgical, Cytogenetics, and Molecular pathologies.

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. [...]

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 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 showed a left lower lobe consolidation. A chest computed tomography (CT) scan revealed an 8.5 cm left lower lobe mass which was biopsied via bronchoscopy [...]

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.

 

Nicole Boczek, Ph.D. Fellow, Cytogenetics Mayo Clinic Nicole Hoppman, Ph.D. Consultant, Laboratory Genetics Mayo Clinic Assistant [...]