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

Babu, V. Ramesh; Dyke, Daniel L. Van; Jackson, Charles E.

doi:10.1073/pnas.81.8.2525

Cited by 43 publications

(12 citation statements)

References 33 publications

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“…For example, it has been shown that medullary carcinoma of the thyroid arises from a single clone of parafollicular cells [Baylin et al, 1978]. More recently, MEN II (which comprises medullary carcinoma of the thyroid) has been associated with dele tions on the short arm of chromosome 20 [Babu et al, 1982], and chromosome dele tions have been found to be associated with the activation of oncogenes in several tumor models [Klein, 1981]. It remains to be seen whether a similar mechanism is in volved in MEN syndromes.…”

Section: Discussionmentioning

confidence: 99%

Variant Multiple Endocrine Neoplasia I (MEN I<sub>Burin</sub>): Further Studies and Non-Linkage to HLA

Bear¹,

Briones‐Urbina²,

Fahey³

et al. 1985

Hum Hered

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We have extended our study of an incomplete variant of multiple endocrine neoplasia Type I (MEN I_Burin). In this syndrome, primary hyperparathyroidism and prolactin-secreting adenoma are common, with hormone-secreting pancreatic tumors being rarely seen. The recent localization of the prolactin structural gene to chromosome 6 made further investigation of linkage to HLA of particular interest. Results in 2 multigeneration families exclude close linkage to HLA. We cannot at this time draw any inference regarding linkage of MEN I_Burin to the prolactin structural gene.

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Section: Discussionmentioning

confidence: 99%

Variant Multiple Endocrine Neoplasia I (MEN I<sub>Burin</sub>): Further Studies and Non-Linkage to HLA

Bear¹,

Briones‐Urbina²,

Fahey³

et al. 1985

Hum Hered

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“…Twelve of 13 MEN-II patients and one of seven controls were scored as having the 20p12.2 deletion (Fig. 1, χ 2 = 12.58, P<0.001) previously reported by Babu et al [7] and Butler et al [8].…”

Section: High-resolution Chromosomesmentioning

confidence: 96%

“…Prometaphase and late prophase spreads were located and two or three cytogeneticists independently scored each chromosome 20 pair for the 20p deletion. All scoring was done through the microscope to maximize optical resolution, similar to the procedure described by Babu et al [7] and Butler et al [8]. Nine to 24 cells without overlap or twist of the short arm of chromosome 20 at the 700-1200 band level were identified and analyzed.…”

Section: High-resolution Chromosomesmentioning

confidence: 99%

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Cytogenetic studies of individuals from four kindreds with multiple endocrine neoplasia type II syndrome

Butler

Rames

Joseph

1987

Cancer Genetics and Cytogenetics

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Multiple endocrine neoplasia type II (MEN-II) syndrome is an autosomal dominant condition characterized by medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid adenoma. A cytogenetic investigation was conducted on 13 MEN-II syndrome patients from four unrelated kindreds and 13 age-matched control subjects for chromosome instability and the chromosome 20 deletion reported in MEN-II syndrome. A significant increase (p < 0.05) was found in the total number of chromatid and chromosome aberrations in MEN-II cells (12.3%) compared with control cells (6.9%) grown at 96 hours in mitomycin C (20 ng/ml, final concentration). The major difference between the two groups was in chromatid, and not chromosome, aberrations. There was no difference between MEN-II and control individuals in fragile site expression, the number of sister chromatid exchanges or cell kinetics.A blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from 13 MEN-II and seven control individuals. Twelve of 13 MEN-II patients and one of seven control subjects were scored as having a 20p12.2 deletion (χ 2 = 12.6; p< 0.001). Additional research is needed to determine if this cytogenetic finding is due to a chromosome deletion, inversion, or polymorphism.

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“…The data for possible assignment for MEN2A to chromosome 20 because of an interstitial deletion at pl2.2 (Van Dyke et al 1982) were fully reported (Babu et al, 1984).…”

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confidence: 99%

Report of the committee on the genetic constitution of chromosomes 20, 21, and 22

Tippett¹,

Kaplan²

1985

Cytogenet Genome Res

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

Abstract: ABSTRACT

Cited by 43 publications

References 33 publications

Variant Multiple Endocrine Neoplasia I (MEN I<sub>Burin</sub>): Further Studies and Non-Linkage to HLA

Variant Multiple Endocrine Neoplasia I (MEN I<sub>Burin</sub>): Further Studies and Non-Linkage to HLA

Cytogenetic studies of individuals from four kindreds with multiple endocrine neoplasia type II syndrome

Report of the committee on the genetic constitution of chromosomes 20, 21, and 22

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