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.

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Photo of Laura Thompson, Ph.D. Laura Thompson, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Linda Hasadsri, M.D., Ph.D. Linda Hasadsri, M.D., Ph.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science

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This post was developed by our Education and Technical Publications Team.