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. 1994 May;54(5):748–756.

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

J Leana-Cox 1, L Jenkins 1, C G Palmer 1, R Plattner 1, L Sheppard 1, W L Flejter 1, J Zackowski 1, F Tsien 1, S Schwartz 1
PMCID: PMC1918252  PMID: 8178816

Abstract

Twenty-seven cases of inverted duplications of chromosome 15 (inv dup [15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P < .01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype.

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Selected References

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  1. Buckton K. E., O'Riordan M. L., Ratcliffe S., Slight J., Mitchell M., McBeath S., Keay A. J., Barr D., Short M. A G-band study of chromosomes in liveborn infants. Ann Hum Genet. 1980 Jan;43(3):227–239. doi: 10.1111/j.1469-1809.1980.tb01556.x. [DOI] [PubMed] [Google Scholar]
  2. Buckton K. E., Spowart G., Newton M. S., Evans H. J. Forty four probands with an additional "marker" chromosome. Hum Genet. 1985;69(4):353–370. doi: 10.1007/BF00291656. [DOI] [PubMed] [Google Scholar]
  3. Callen D. F., Ringenbergs M. L., Fowler J. C., Freemantle C. J., Haan E. A. Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet. 1990 Mar;27(3):155–159. doi: 10.1136/jmg.27.3.155. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Choo K. H., Earle E., Vissel B., Filby R. G. Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15. Genomics. 1990 Jun;7(2):143–151. doi: 10.1016/0888-7543(90)90534-2. [DOI] [PubMed] [Google Scholar]
  5. Dahoun-Hadorn S., Delozier-Blanchet C. Reflections on small supernumerary (marker) chromosomes: could imprinting and isodisomy play a role in the phenotypic expression of hyperdiploidy? Ann Genet. 1990;33(4):241–242. [PubMed] [Google Scholar]
  6. Fujita H., Sakamoto Y., Hamamoto Y. An extra idic(15p)(q11) chromosome in Prader-Willi syndrome. Hum Genet. 1980;55(3):409–411. doi: 10.1007/BF00290227. [DOI] [PubMed] [Google Scholar]
  7. Knight L. A., Lipson M., Mann J., Bachman R. Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter. Am J Med Genet. 1984 Mar;17(3):649–654. doi: 10.1002/ajmg.1320170315. [DOI] [PubMed] [Google Scholar]
  8. Kuwano A., Kajii T. High-resolution banding in chromosomes of B lymphoblastoid cells and cultured skin fibroblasts. Cytogenet Cell Genet. 1991;56(3-4):212–213. doi: 10.1159/000133091. [DOI] [PubMed] [Google Scholar]
  9. Kuwano A., Mutirangura A., Dittrich B., Buiting K., Horsthemke B., Saitoh S., Niikawa N., Ledbetter S. A., Greenberg F., Chinault A. C. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet. 1992 Sep;1(6):417–425. doi: 10.1093/hmg/1.6.417. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. Maraschio P., Zuffardi O., Bernardi F., Bozzola M., De Paoli C., Fonatsch C., Flatz S. D., Ghersini L., Gimelli G., Loi M. Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet. 1981;57(4):345–350. doi: 10.1007/BF00281681. [DOI] [PubMed] [Google Scholar]
  12. Nicholls R. D. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet. 1993 Apr 1;46(1):16–25. doi: 10.1002/ajmg.1320460106. [DOI] [PubMed] [Google Scholar]
  13. Nicholls R. D., Knoll J. H., Glatt K., Hersh J. H., Brewster T. D., Graham J. M., Jr, Wurster-Hill D., Wharton R., Latt S. A. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet. 1989 May;33(1):66–77. doi: 10.1002/ajmg.1320330109. [DOI] [PubMed] [Google Scholar]
  14. Pinkel D., Straume T., Gray J. W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A. 1986 May;83(9):2934–2938. doi: 10.1073/pnas.83.9.2934. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Plattner R., Heerema N. A., Howard-Peebles P. N., Miles J. H., Soukup S., Palmer C. G. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet. 1993 Jul;91(6):589–598. doi: 10.1007/BF00205086. [DOI] [PubMed] [Google Scholar]
  16. Plattner R., Heerema N. A., Patil S. R., Howard-Peebles P. N., Palmer C. G. Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet. 1991 Jul;87(3):290–296. doi: 10.1007/BF00200906. [DOI] [PubMed] [Google Scholar]
  17. Robinson W. P., Binkert F., Giné R., Vazquez C., Müller W., Rosenkranz W., Schinzel A. Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet. 1993;1(1):37–50. doi: 10.1159/000472386. [DOI] [PubMed] [Google Scholar]
  18. Schreck R. R., Breg W. R., Erlanger B. F., Miller O. J. Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum Genet. 1977 Apr 7;36(1):1–12. doi: 10.1007/BF00390430. [DOI] [PubMed] [Google Scholar]
  19. Schweizer D., Ambros P., Andrle M. Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A. Exp Cell Res. 1978 Feb;111(2):327–332. doi: 10.1016/0014-4827(78)90177-5. [DOI] [PubMed] [Google Scholar]
  20. Shibuya Y., Tonoki H., Kajii N., Niikawa N. Identification of a marker chromosome as inv dup(15) by molecular analysis. Clin Genet. 1991 Sep;40(3):233–236. doi: 10.1111/j.1399-0004.1991.tb03083.x. [DOI] [PubMed] [Google Scholar]
  21. Steinbach P., Djalali M., Hansmann I., Kattner E., Meisel-Stosiek M., Probeck H. D., Schmidt A., Wolf M. The genetic significance of accessory bisatellited marker chromosomes. Hum Genet. 1983;65(2):155–164. doi: 10.1007/BF00286654. [DOI] [PubMed] [Google Scholar]
  22. Stetten G., Sroka-Zaczek B., Corson V. L. Prenatal detection of an accessory chromosome identified as an inversion duplication (15). Hum Genet. 1981;57(4):357–359. doi: 10.1007/BF00281684. [DOI] [PubMed] [Google Scholar]
  23. Tantravahi U., Nicholls R. D., Stroh H., Ringer S., Neve R. L., Kaplan L., Wharton R., Wurster-Hill D., Graham J. M., Jr, Cantú E. S. Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet. 1989 May;33(1):78–87. doi: 10.1002/ajmg.1320330110. [DOI] [PubMed] [Google Scholar]
  24. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991 Nov;49(5):995–1013. [PMC free article] [PubMed] [Google Scholar]
  25. Wisniewski L. P., Doherty R. A. Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases. Hum Genet. 1985;69(2):161–163. doi: 10.1007/BF00293289. [DOI] [PubMed] [Google Scholar]
  26. Wisniewski L. P., Witt M. E., Ginsberg-Fellner F., Wilner J., Desnick R. J. Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet. 1980 Jul;18(1):42–47. doi: 10.1111/j.1399-0004.1980.tb01363.x. [DOI] [PubMed] [Google Scholar]
  27. Wisniewski L., Hassold T., Heffelfinger J., Higgins J. V. Cytogenetic and clinical studies in five cases of inv dup(15). Hum Genet. 1979 Sep;50(3):259–270. doi: 10.1007/BF00399391. [DOI] [PubMed] [Google Scholar]

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