Course : Whorls and Swirls: The Skin as Nature's Window to Mosaicism

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.




This course will highlight the growing understanding of cutaneous mosaicism and its pathogenetic mechanisms. From clinic to bench, we will discuss practical clinical tips and cutting edge science in the context of nature's human canvas, the skin. We will review disorders with visible evidence of mosaicism. Although the association with underlying abnormality is well-known, the guidelines for patient assessment remain controversial. This session will highlight the current guidelines and recommendations for patient care. The session will also discuss recently developed genetic testing approaches that have translated into improved diagnosis and genetic counseling for individuals with mosaic/segmental presentation.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:At the conclusion of this course, participants should be able to:

1. Review recognized patterns and pathogenetic mechanisms of cutaneous mosaicism
2. Describe pitfalls and benefits in testing for cutaneous mosaicism
3. Illustrate challenges in diagnosis, management and genetic counseling of mosaic disorders
4. Describe a practical approach for cutaneous examination for the practicing geneticist

Purchase without Educational Credits