Fish detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes

American Journal of Medical Genetics

Volumn 62, Issue 3, 1996, Pages 216-223

  Teshima, I ^a,b   Chadwick, D ^a   Chitayat, D ^a   Kobayashi, J ^b   Ray, P ^a   Shuman, C ^a   Siegel Bartelt, J ^a   Strasberg, P ^a   Weksberg, R ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Angelman syndrome; chromosome 15 deletions; FISH; paternal transmission of deletion; Prader Willi syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME G BAND; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; CHROMOSOME 15; CHROMOSOME BANDING PATTERN; DINUCLEOTIDE REPEAT; GENETICS; METHYLATION;

ANGELMAN SYNDROME; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DINUCLEOTIDE REPEATS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; METHYLATION; PRADER-WILLI SYNDROME;

EID: 0029990044     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<216::AID-AJMG3>3.0.CO;2-R     Document Type: Article

References (41)

1. Berg JM, Pakula Z (1972): Angelman's ("happy puppet") syndrome. Am J Dis Child 123:72-74.
2. Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L (1995): FISH analysis in Prader-Willi and Angelman syndrome patients. Am J Med Genet 56:224-228.
3. Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RCM, Van Broeckhoven C, Willems PJ (1993): Molecular study of chromosome 15 in 22 patients with Angelman syndrome. Hum Genet 90:489-495.
4. 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.
5. Butler MG (1995): High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome. Am J Med Genet 56:420-422.
6. Buxton JL, Chan C-TJ, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S (1994): Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Hum Mol Genet 3:1409-1413.
7. Chan C-TJ, Clayton-Smith J, Cheng X-J, Buxton J, Webb T, Pembrey ME, Malcolm S (1993): Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet 30:895-902.
8. Cheng S-D, Spinner NB, Zackai EH, Knoll JHM (1994): Cytogenetic and molecular characterization of inverted duplicated chromosome 15 from 11 patients. Am J Hum Genet 55:753-759.
9. Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA (1994): Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 52:85-91.
10. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B (1992): Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:313-315.
11. Dittrich B, Buiting K, Gross S, Horsthemke B (1993): Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 2:1995-1999.
12. Francke U (1994): Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet 65:206-219.
13. Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B (1995): DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 32:88-92.
14. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993a): Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2:1377-1382.
15. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993b): Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2:2001-2005.
16. Greger V, Reis A, Lalande M (1994): The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 53:396-398.
17. Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N (1991): DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet 41:64-68.
18. Hoo J-J, Chao MC, Samuel IP, Morgan AM (1990): Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome. Clin Genet 37:161-166.
19. Hultén M, Armstrong S, Challinor P, Gould C, Hardy G, Leedham P, Lee T, McKeown C (1991): Genomic imprinting in an Angelman and Prader-Willi translocation family. Lancet 338:638-639.
20. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993): Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
21. Ikeuchi T (1984): Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet 38:56-61.
22. Josifek K, Haessig C, Pantzer T (1991): Evaluation of chromosome banding resolution: A simple guide for laboratory quality assurance. Applied Cytogenet 17:101-105.
23. Knoll JHM, Nicholls RD, Magenis RE, Graham Jr JM, Lalande M, Latt SA (1989): Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
24. Kokkonen H, Kähkönen M, Leisti J (1995): A molecular and cytogenetic study in Finnish Prader-Willi patients. Hum Genet 95:568-571.
25. Kuwano A, Mutirangura A, Dittrich B, Buiting B, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, Ledbetter DH (1992): Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1:417-425.
26. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1991): Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201.
27. Malcolm S, Donlon T (1994): Report of the second international workshop on human chromosome 15 mapping 1994. Cytogenet Cell Genet 67:2-22.
28. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL, Jeffreys AJ, Ladda RL, Nicholls RD (1992): The frequency of uniparental disomy in Prader-Willi syndrome, implications for molecular diagnosis. N Engl J Med 326:1599-1607.
29. 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.
30. Özçelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U (1992): Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 2:265-269.
31. Robinson W, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih L-Y, Aviv H, Schinzel AA (1993): 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 30:756-760.
32. Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N (1994): Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 52:158-163.
33. Smith A, Prasad M, Deng ZM, Robson L, Woodage T, Trent RJ (1995): Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Arch Dis Child 72:397-402.
34. Spinner NB, Zackai E, Cheng SD, Knoll JHM (1995): Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11→13. Am J Med Genet 57:61-65.
35. 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.
36. Tsai AC, Teshima I, Cytrynbaum C, Siegel-Bartelt J (1995): FISH analysis of rare maternal translocation (15;16)(q13;q13) in a boy with duplication 16p and Angelman syndrome. 26th March of Dimes Clinical Genetics Conference/2nd annual meeting of the American College of Medical Genetics, March 6-9 (Abstract).
37. Van den Ouweland AMW, Van der Est MN, Wesby-Van Swaay E, Tijmensen TSLN, Los FJ, Van Hemel JO, Hennekam RCM, Meijers-Heijboer HJ, Niermeijer MF, Halley DJJ (1995): DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 95:562-567.
38. Webb T, Clarke D, Hardy CA, Kilpatrick MW, Corbett J, Dahlitz M (1995): A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet 32:181-185.
39. White L, Knoll JHM (1995): Angelman syndrome: validation of molecular cytogenetic analysis of chromosome 15q11-q13 for deletion detection. Am J Med Genet 56:101-105.
40. Woodage T, Deng Z-M, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ (1994): A variety of genetic mechanisms are associated with the Prader-Willi syndrome. Am J Med Genet (Neuropsychol Genet) 54:219-226.
41. Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA (1993): Cytogenetic and molecular analysis in Angelman syndrome. Am J Med Genet 46:7-11.