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A Case of Angelman Syndrome Arising as a Result of a De Novo Robertsonian Translocation

Published online by Cambridge University Press:  01 August 2014

S. Ramsden ,
L. Gaunt ,
A. Seres-Santamaria  and
J. Clayton-Smith
S. Ramsden*
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
L. Gaunt
Affiliation:
Department of Medical Genetics, Barcelona, Spain
A. Seres-Santamaria
Affiliation:
Department of Medical Genetics, Barcelona, Spain
J. Clayton-Smith
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
*
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom

Abstract

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A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.

Keywords

Angelman syndromeUniparental disomyRobertsonian translocation
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 255 - 261
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Angelman, H: “Puppet children”: A report on three cases. Dev Med Child Neurol 1965; 7: 681–688.Google Scholar
2. Webb, T, Clayton-Smith, J, Cheng, X, Knoll, JHM, Lalande, M, Pembrey, ME, Malcolm, S: Angelman syndrome with a chromosomal inversion 15inv (p11q13) accompanied by a deletion in 15q11q13. J Med Genet 1992; 29: 921–924.CrossRefGoogle ScholarPubMed
3. Robinson, WP, Wagstaff, J, Bernasconi, F, Baccichetti, C, Artifoni, L, Franzoni, E, Suslak, L, Shih, L, Aviv, H, Schinzel, AA: Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup (15) chromosome. J Med Genet 1993; 30: 756–760.Google Scholar
4. Mutirangura, A, Greenberg, F, Butler, MG, Malcolm, S, Nicholls, RD, Chakravarti, A, Ledbetter, DH: Multiplex PCR of three dinucleotid repeats in the Prader-Willi/Angelman critical region (15q11-q13). Hum Mol Genet 1993; 2: 143–151.Google Scholar
5. Dittrich, B, Robinson, WP, Knoblauch, H, Buiting, K, Schmidt, K, Gillessen-Kaesbach, G, Horsthemke, B: Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent of-origin specific DNA methylation in 15q11-13. Hum Genet 1992; 90: 313–315.CrossRefGoogle ScholarPubMed
6. Knoll, JHM, Nichols, RD, Magenis, RE, Graham, JM, Kaplan, L, Lalande, M: Angelman syndrome: 3 molecular classes identified with chromosome 15q11q13 specific DNA markers. Am J Hum Genet 1990; 47: 149–155.Google Scholar
7. Malcolm, S, Clayton-Smith, J, Nichols, M, Robb, S, Webb, T, Armour, JAL, Jeffreys, AJ, Pembrey, ME: Uniparental disomy in Angelman's syndrome. Lancet 1991; 694–697.Google Scholar
8. Hall, JG: Angelman's syndrome, abnormality of 15q 11-13, and imprinting. J Med Genet 1990; 27: 141–144.Google Scholar
9. Donnai, D: Robertsonian translocations: Clues to imprinting. Am J Med Genet 1993; 46: 681–682.CrossRefGoogle ScholarPubMed
10. Glatt, KA, Sinnett, D, Lalande, M: Dinucleotide repeat polymorphism at the GABAA receptor 5 (GABRA5) locus at chromosome 15q11-q13. Hum Mol Genet 1992; 1: 348.Google Scholar
11. Cassidy, SB, Lai, LW, Erikson, RP, Magnuson, L, Thomas, E, Gendron, R, Herrmann, J: Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 1992; 51: 701–708.Google ScholarPubMed
12. Spence, JE, Perciaccante, RG, Greig, GM, Willard, HF, Ledbetter, DH, Heijtmancik, JF, Pollack, MS, O'Brien, WE, Beaudet, AL: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet: 1988; 42: 217–226.Google Scholar
13. Wang, JC, Passage, MB, Yen, PH, Shapiro, LJ, Mohandas, TK: Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation. Am J Hum Genet 1991; 48: 1069–1074.Google Scholar
14. Rinchik, EM, Bultman, SJ, Horsthemke, B, Lee, S, Strunk, KM, Spritz, RA, Avidano, KM, Jong, MTC, Nicholls, RD: A gene for the mouse pink-eyed dilution locus and for human type II ocu-locutaneous albinism. Nature 1993; 361: 72–76.Google Scholar