A 32-year-old female presented to OB/GYN at 18 weeks gestation. Mutliple ultrasound anomalies were detected, including postaxial polydactyly, choroid plexus cysts, and omphalocele. Non-invasive prenatal[...]
A 33-year-old man presented with a history of infertility. A blood sample was submitted to the laboratory for molecular analysis of Y chromosome microdeletions. Analysis[...]
Mayo Clinic laboratory experts share four case studies in this month's PathWays post and are challenging you to test your anatomic pathology and laboratory genetics knowledge. Review the cases, take the quizzes, and learn how the correct diagnosis was made. Good luck.
This week's case study reviews the molecular and biochemical genetic testing from a 34-year-old female. Can you make the diagnosis?