Abstract
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 language | English (US) |
|---|---|
| Pages (from-to) | 2525-2528 |
| Number of pages | 4 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Volume | 81 |
| Issue number | 8 I |
| State | Published - 1984 |
| Externally published | Yes |
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ASJC Scopus subject areas
- General
- Genetics
Cite this
Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B : A double-blind study. / Babu, V. R.; Van Dyke, D. L.; Jackson, C. E.
In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 81, No. 8 I, 1984, p. 2525-2528.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B
T2 - A double-blind study
AU - Babu, V. R.
AU - Van Dyke, D. L.
AU - Jackson, C. E.
PY - 1984
Y1 - 1984
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0021416448&partnerID=8YFLogxK
M3 - Article
C2 - 6585814
AN - SCOPUS:0021416448
VL - 81
SP - 2525
EP - 2528
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
SN - 0027-8424
IS - 8 I
ER -