June 2020 — Laboratory Genetics and Genomics
Methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) was used for select family members of the pedigree shown here to test for the presence of large deletions, duplications and/or methylation defects in the imprinting control regions IC1 (H19) and IC2 (LIT1) on chromosome 11p15. The proband (IV-6) is a 21 month old female referred for genetic testing due to short stature along with growth and developmental delay.
|Laura Thompson, Ph.D.
Fellow, Laboratory Genetics and Genomics
|Linda Hasadsri, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science