Question #139 (1/9/2026)

National Association of Medical Examiners 
Educational Activities Committee

Submitted by Dr. Casey P. Schukow (Co-Chief Resident Pathologist, PGY3, Corewell Health William Beaumont University Hospital, Royal Oak, Michigan) and Dr. Jacqueline K. Macknis, MD (Faculty Pathologist, Program Director, AP/CP Residency Program, Corewell Health William Beaumont University Hospital, Royal Oak, Michigan).
1.A liveborn male fetus at 37 weeks' gestation expired after approximately two weeks of life due to a complicated post-natal course. He was born to a G2P0010 mother in her late twenties. Prenatal ultrasound showed multiple congenital anomalies and amniocentesis revealed a clinically significant variant with otherwise normal male karyotype. Additionally, the newborn screen was positive for elevated 7-dehydrocholesterol levels.

Based on this history and the external findings shown in the photos, which chromosome is most likely involved?