Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: A double-blind study

V. R. Babu, D. L. Van Dyke, C. E. Jackson

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41 Scopus citations


Multiple endocrine neoplasia type 2A and 2B (MEN-2A and MEN-2B) are autosomal dominantly inherited syndromes in which medullary thyroid cancers are associated with adrenal pheochromocytomas. A double-blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from patients in four MEN-2A families and five MEN-2B (mucosal neuroma phenotype) families and from control subjects. Excluding studies on duplicate blood specimens, 9 of 11 control subjects were scored as having normal chromosomes 20, and 11 of 14 MEN-2 patients were scored as having chromosomal deletion: del(20)(p12.2p12.2) (χ2 = 9.00; P < 0.001). Two new mutant MEN-2B patients had apparently normal chromosomes 20. These findings demonstrate that the dominant mutation in most MEN-2A and MEN-2B families is a visible chromosome deletion within band 20p12.2.

Original languageEnglish (US)
Pages (from-to)2525-2528
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number8 I
StatePublished - 1984
Externally publishedYes


ASJC Scopus subject areas

  • General
  • Genetics

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