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.
This quiz is no longer available.Laura Thompson, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic |
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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 |