Chromosome 20 deletion in multiple endocrine neoplasia type 2: Expanded double-blind studies
✍ Scribed by Babu, V. Ramesh ;Van Dyke, Daniel L. ;Flejter, Wendy L. ;Jackson, Charles E. ;Opitz, John M. ;Reynolds, James F. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 456 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Multiple endocrine neoplasia MEN) type 2A and 2A are aut.0-soma1 dominant syndromes in which medullary thyroid cancers are associated wjth adrenal pheochromo ytomas. We have expanded our double-blind studies of high-resolution G-banded chromosomes from lymphocytes to a total o€ 12 MEN-2A families, 7 MEN-2R (mucosa1 neuroma phenotype) families and 23 non-MEN control subjects. Eighteen of 23 different control subjects were scored as having normal chromosomes 20, and 15 of 21 MEN-2A and 4 of 8 MEN-29 patients were scored as having an interstitial deletion: del(20) (p12.2p12.2). These findings suggest that the dominant mutation in many MEN-2A and MEN-2B families is a visible deletion within band 20~12.2. Combining the results of these double-blind studies with those of the only other comparable reported double-blind series provides a statistical probability of less than 1/1000 that the association between MEN-2A and the deletion was observed by chance alone. However, the occasional discrepancies in classification using presently available techniques preclude the use of high resolution chromosome studies for the diagnosis of