Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction

Clinical Genetics

Volumn 55, Issue 6, 1999, Pages 483-486

  Gyftodimou, J ^a   Karadima, G ^a   Pandelia, E ^a   Vassilopoulos, D ^a   Petersen, Michael B ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b 'Ag Sophia' Children's Hospital   (Greece)

Author keywords

Angelman syndrome; Chromosome 15; Nondisjunction; Overgrowth; Uniparental disomy

Indexed keywords

ARTICLE; ATAXIA; CASE REPORT; CHIN; CHROMOSOME 15; EYE MALFORMATION; FACE DEFORMITY; FATHER; FEMALE; GROWTH DISORDER; HAPPY PUPPET SYNDROME; HOMOZYGOSITY; HUMAN; MEIOSIS; MUSCLE HYPERTONIA; NONDISJUNCTION; NONVERBAL COMMUNICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DISORDER; TONGUE; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; MEIOSIS; MICROSATELLITE REPEATS; NONDISJUNCTION, GENETIC;

EID: 0032792244     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550615.x     Document Type: Article

References (28)

1. Angelman H. 'Puppet' children: a report on three cases. Develop Med Child Neurol 1965: 7: 681-688.
2. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Jr, Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989: 32: 285-290.
3. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. Uniparental paternal disomy in Angelman's syndrome. Lancet 1991: 337: 694-697.
4. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an im-printing centre on human chromosome 15. Nat Genet 1995: 9: 395-400.
5. Horsthemke B, Dittrich B, Buiting K. Imprinting mutations on human chromosome 15. Hum Mutat 1997: 10: 329-337.
6. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997: 15: 70-73.
7. Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-h, Benton CS, Rommens JM, Beaudet AL. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997: 15: 74-77.
8. Malzac P, Webber H, Moncla A, Graham JM Jr, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 1998: 62: 1353-1360.
9. Nicholls RD, Pai GS, Gottlieb W, Cantú ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann Neurol 1992: 32: 512-518.
10. Chan C-TJ, Clayton-Smith J, Cheng X-J, Buxton J, Webb T, Pembrey ME, Malcolm S. Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet 1993: 30: 895-902.
11. Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet 1993: 53: 740-751.
12. Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA. Increased parental ages and uniparental disomy 15: a paternal age effect? Eur J Hum Genet 1993: 1: 280-286.
13. Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 1996: 16: 837-844.
14. Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A. Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet 1994: 51: 35-40.
15. Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B. Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Med Genet 1995: 56: 328-329.
16. Prasad C, Wagstaff J. Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. Am J Med Genet 1997: 70: 328-329.
17. Smith A, Marks R, Haan E, Dixon J, Trent RJ. Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J Med Genet 1997: 34: 426-429.
18. Smith A, Robson L, Buchholz B. Normal growth in Angelman syndrome due to paternal UPD. Clin Genet 1998: 53: 223-225.
19. Harpey J-P, Heron D, Prudent M, Lesourd S, Henry I, Royer-Legrain G, Munnich A, Bonnefont J-P. Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship. Am J Med Genet 1998: 76: 103-104.
20. Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ. Paternal uniparental disomy in a child with a balanced 15; 15 translocation and Angelman syndrome. Am J Med Genet 1993: 45: 625-630.
21. Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. Am J Med Genet 1996: 66: 426-428.
22. Fridman C, Varela MC, Nicholls RD, Koiffmann CP. Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Clin Genet 1998: 54: 303-308.
23. Bürger J, Kunze J, Sperling K, Reis A. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Am J Med Genet 1996: 66: 221-226.
24. Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 1997: 68: 195-206.
25. Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE. Linkage analysis of the human H MG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics 1990: 7: 136-138.
26. Zaragoza MV, Millie E, Redline RW, Hassold TJ. Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology? J Med Genet 1998: 35: 924-931.
27. Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Suiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. A complete YAC contig of the Prader - Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 1993: 18: 546-552.
28. Matise TC, Perlin M, Chakravarti A. Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map. Nat Genet 1994: 6: 384-390.