In 19 patients from nine MEN-2A families, high-resolution C-banded chromosome studies have revealed a visible deletion within sub-band 20p12.2, yet no abnormality was observed in a 10th family. A deletion indistinguishable from that in MEN-2A was observed in five patients from three MEN-2B families but not in two other MEN-2B families. We found no abnormality in the entire karyotype of the four MEN-1 patients studied. These findings suggest that the mutation in most MEN-2 patients is a visible deletion in the short arm of chromosome 20.
Van Dyke, Daniel L.; Babu, V. Ramesh; and Jackson, Charles E.
"Chromosomes in Multiple Endocrine Neoplasia Type 2 Syndromes,"
Henry Ford Hospital Medical Journal
: Vol. 32
Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol32/iss4/14