Chromosome 20 deletion in multiple endocrine neoplasia type 2: expanded double-blind studies

American Journal of Medical Genetics
V R BabuC E Jackson

Abstract

Multiple endocrine neoplasia (MEN) type 2A and 2B are autosomal dominant syndromes in which medullary thyroid cancers are associated with adrenal pheochromocytomas. We have expanded our double-blind studies of high-resolution G-banded chromosomes from lymphocytes to a total of 12 MEN-2A families, 7 MEN-2B (mucosal 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-2B 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 20p12.2. 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 MEN-2.

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Citations

Oct 15, 1988·Cancer Genetics and Cytogenetics·D H Wurster-HillJ Dossu
Jun 1, 1988·Cancer Genetics and Cytogenetics·W L FlejterC E Jackson
Apr 1, 1995·Cancer Genetics and Cytogenetics·L D CooleyR F Gagel
Jun 1, 1991·Pediatric Dermatology·J F KirkJ F Browder
May 18, 1999·The American Journal of Pathology·S HemmerH Joensuu
Sep 15, 1989·Klinische Wochenschrift·H P NeumannP Schollmeyer
Jan 1, 2011·Animal : an International Journal of Animal Bioscience·M BezabihW H Hendriks

Related Concepts

Partial Monosomy
Chromosomes, Human, Pair 20
Double-Blind Method
Genetic Conditions, Dominant
Genetic Markers
Karyotype Determination Procedure
Genetic Linkage Analysis
Multiple Endocrine Neoplasia

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