Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

American Journal of Human Genetics

Volumn 61, Issue 2, 1997, Pages 388-394

  Conroy, Jeffrey M ^a   Grebe, Theresa A ^b   Becker, Laurie A ^a   Tsuchiya, Karen ^a   Nicholls, Robert D ^a   Buiting, Karin ^c   Horsthemke, Bernhard ^c   Cassidy, Suzanne B ^a   Schwartz, Stuart ^a,d  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME 2Q; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 2; CLINICAL FEATURE; HUMAN; MALE; NEWBORN; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

RICKETTSIA SP. PAR;

EID: 0030761243     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/514852     Document Type: Article

References (27)

1. Bedell MA, Copeland NG, Jenkins NA (1996) Good genes in bad neighborhoods. Nat Genet 12:229-232
2. Buiting K, Dittrich B, Groß S, Greger V, Lalande M, Robinson W, Mutirangura A, et al (1993) Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum Mol Genet 2:1991-1994
3. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
4. Butler MG (1990) Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 35:319-332
5. Cassidy SB (1984) Prader-Willi syndrome. Curr Probl Pediatr 14:1-55
6. Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ (1993) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005
7. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58:335-346
8. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg G (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398-402
9. Ikeuchi (1984) Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding. Cytogenet Cell Genet 38: 56-61
10. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD (1981) Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304: 325-329
11. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, et al (1992) The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. N Engl J Med 326:1599-1607
12. Micale MA, Haren JM, Conroy JM, Crowe CA, Schwartz S (1995) Parental origin of de novo chromosome 9 deletions in del(9p) syndrome. Am J Med Genet 57:79-81
13. Milot E, Fraser P, Grosveld F (1996) Position effects and genetic disease. Trends Genet 12:123-126
14. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993) Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13) molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151
15. Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL (1994) Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S255E). Hum Mol Genet 3:309-315
16. Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326
17. Phelan MC, Rogerts RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, et al (1995) Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 58:1-7
18. Reed ML, Leff SE (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader Willi syndrome. Nat Genet 6:163-167
19. Robinson WP, Bottani A, Yagang X, Balakrishnan J, Binkert F, Machler M, Prader A, et al (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234
20. Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, et al (1997) Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 68:195-206
21. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, Koni R, et al (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93:7811-7815
22. Schulze A, Hansen C, Skakkebaek NE, Brondum-Nielsen K, Ledbetter DH, Tommerup N (1996) Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet 12:452-454
23. Sullivan BA, Jenkins LS, Karson EM, Leana-Cox J, Schwartz S (1996) Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. Am J Hum Genet 59:167-175
24. Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (1996) Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet 5:517-524
25. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58
26. Wevrick R, Kerns JA, Francke U (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3:1877-1882
27. Wilson LC, Leverton K, Oude Luttikhuis MEM, Oley CA, Flint J, Wolstenholme J, Duckett DP, et al (1995) Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet 56:400-407