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. 1989 Jun;44(6):806–810.

Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.

S B Cassidy 1, A J Gainey 1, M G Butler 1
PMCID: PMC1715664  PMID: 2729276

Abstract

Prader-Willi syndrome (PWS) is a multiple-anomaly disorder in which 50%-70% of cases are associated with a de novo interstitial deletion [del 15(q11-13)] on prometaphase cytogenetic analysis, the remainder having apparently normal chromosomes. In most instances, the paternally derived chromosome has become deleted in the affected child, suggesting the possibility of a predisposing environmental factor. Strakowski and Butler found an increased incidence of paternal periconceptional employment in hydrocarbon-exposing occupations in this population. This observation may suggest a causal relationship to PWS. To determine whether this association may distinguish the cytogenetically different groups, we identified 81 patients with the disorder who were physically and cytogenetically examined in three centers, and we compared the frequency of possible periconceptional occupational hydrocarbon exposure between fathers of patients who demonstrate a 15q deletion and those who do not. There was no statistically significant difference between the cytogenetically different groups. In both groups, approximately half of the fathers had been employed in hydrocarbon-exposing jobs. These findings suggest lack of etiologic heterogeneity between the cytogenetically different groups for PWS and affirm the need to seek submicroscopic deletions through molecular genetic studies. These data also provide additional evidence that hydrocarbon exposure among fathers of children with PWS may be causally related to the disorder, and they also suggest the need for more accurate assessment of exposure via a large, controlled study.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bauchinger M., Schmid E., Dresp J., Kolin-Gerresheim J., Hauf R., Suhr E. Chromosome changes in lymphocytes after occupational exposure to toluene. Mutat Res. 1982 Dec;102(4):439–445. doi: 10.1016/0165-1218(82)90106-9. [DOI] [PubMed] [Google Scholar]
  2. Butler M. G., Meaney F. J., Palmer C. G. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1986 Mar;23(3):793–809. doi: 10.1002/ajmg.1320230307. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Butler M. G., Palmer C. G. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet. 1983 Jun 4;1(8336):1285–1286. doi: 10.1016/s0140-6736(83)92745-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Butler M. G., Repaske D. R., Joseph G. M., Phillips J. A., 3rd High resolution chromosome and DNA analysis in multiple endocrine neoplasia type II syndrome. Cancer Genet Cytogenet. 1987 Jan;24(1):129–135. doi: 10.1016/0165-4608(87)90089-6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Cassidy S. B. Prader-Willi syndrome. Curr Probl Pediatr. 1984 Jan;14(1):1–55. doi: 10.1016/0045-9380(84)90043-4. [DOI] [PubMed] [Google Scholar]
  6. Gold E. B., Diener M. D., Szklo M. Parental occupations and cancer in children--a case-control study and review of the methodologic issues. J Occup Med. 1982 Aug;24(8):578–584. [PubMed] [Google Scholar]
  7. Haglund U., Lundberg I., Zech L. Chromosome aberrations and sister chromatid exchanges in Swedish paint industry workers. Scand J Work Environ Health. 1980 Dec;6(4):291–298. doi: 10.5271/sjweh.2606. [DOI] [PubMed] [Google Scholar]
  8. Hansteen I. L., Hillestad L., Thiis-Evensen E., Heldaas S. S. Effects of vinyl chloride in man: a cytogenetic follow-up study. Mutat Res. 1978 Aug;51(2):271–278. doi: 10.1016/s0027-5107(78)80022-0. [DOI] [PubMed] [Google Scholar]
  9. Kantor A. F., Curnen M. G., Meigs J. W., Flannery J. T. Occupations of fathers of patients with Wilms's tumour. J Epidemiol Community Health. 1979 Dec;33(4):253–256. doi: 10.1136/jech.33.4.253. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Kucerová M., Polívková Z., Bátora J. Comparative evaluation of the frequency of chromosomal aberrations and the SCE numbers in peripheral lymphocytes of workers occupationally exposed to vinyl chloride monomer. Mutat Res. 1979 May;67(1):97–100. doi: 10.1016/0165-1218(79)90105-8. [DOI] [PubMed] [Google Scholar]
  11. Labidi F., Cassidy S. B. A blind prometaphase study of Prader-Willi syndrome: frequency and consistency in interpretation of del 15q. Am J Hum Genet. 1986 Oct;39(4):452–460. [PMC free article] [PubMed] [Google Scholar]
  12. Ledbetter D. H., Mascarello J. T., Riccardi V. M., Harper V. D., Airhart S. D., Strobel R. J. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am J Hum Genet. 1982 Mar;34(2):278–285. [PMC free article] [PubMed] [Google Scholar]
  13. Ledbetter D. H., Riccardi V. M., Airhart S. D., Strobel R. J., Keenan B. S., Crawford J. D. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981 Feb 5;304(6):325–329. doi: 10.1056/NEJM198102053040604. [DOI] [PubMed] [Google Scholar]
  14. Magenis R. E. On the origin of chromosome anomaly. Am J Hum Genet. 1988 Apr;42(4):529–533. [PMC free article] [PubMed] [Google Scholar]
  15. Miettinen O. Estimability and estimation in case-referent studies. Am J Epidemiol. 1976 Feb;103(2):226–235. doi: 10.1093/oxfordjournals.aje.a112220. [DOI] [PubMed] [Google Scholar]
  16. Mäki-Paakkanen J., Husgafvel-Pursiainen K., Kalliomäki P. L., Tuominen J., Sorsa M. Toluene-exposed workers and chromosome aberrations. J Toxicol Environ Health. 1980 Jul;6(4):775–781. doi: 10.1080/15287398009529896. [DOI] [PubMed] [Google Scholar]
  17. Niikawa N., Ishikiriyama S. Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation. Hum Genet. 1985;69(1):22–27. doi: 10.1007/BF00295524. [DOI] [PubMed] [Google Scholar]
  18. Rybak J., Tharapel A., Robinett S., Garcia M., Mankinen C., Freeman M. A simple reproducible method for prometaphase chromosome analysis. Hum Genet. 1982;60(4):328–333. doi: 10.1007/BF00569213. [DOI] [PubMed] [Google Scholar]
  19. Strakowski S. M., Butler M. G. Paternal hydrocarbon exposure in Prader-Willi syndrome. Lancet. 1987 Dec 19;2(8573):1458–1458. doi: 10.1016/s0140-6736(87)91152-4. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Yu R. L., Aronson M. M., Nichols W. W. High-resolution bands in human fibroblast chromosomes induced by actinomycin D. Cytogenet Cell Genet. 1981;31(2):111–114. doi: 10.1159/000131634. [DOI] [PubMed] [Google Scholar]
  21. Yunis J. J. High resolution of human chromosomes. Science. 1976 Mar 26;191(4233):1268–1270. doi: 10.1126/science.1257746. [DOI] [PubMed] [Google Scholar]

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