Identification of Mosaicism in Prader-Willi Syndrome Using Fluorescent in Situ Hybridization

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 66, Issue 4, 1996, Pages 403-412

  Mowery Rushton, Patricia A ^a   Hanchett, Jeanne M ^c   Zipf, William B ^e   Rogan, Peter K ^d,f   Surti, Urvashi ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UPMC Rehabilitation Institute   (United States)

^d PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^e NATIONWIDE CHILDREN S HOSPITAL   (United States)

^f ALLEGHENY SINGER RESEARCH INSTITUTE   (United States)

Author keywords

Fluorescence in situ hybridization; Prader Willi syndrome; Somatic mosaicism

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME DELETION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; MOSAICISM; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; PHENOTYPE; PRADER-WILLI SYNDROME;

EID: 0030462534     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961230)66:4<403::AID-AJMG4>3.0.CO;2-L     Document Type: Article

References (47)

1. Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG (1995): Single cell analysis demonstrating somatic mosaicism involving lip in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Hum Mol Genet 4:395-399.
2. Bröcker-Vriends AHJT, Briet E, Dreesen JCFM, Bakker B, Reitsma P, Pannekoek H, van de Kamp JJP, Pearson PL (1990): Somatic origin of inherited haemophilia A. Hum Genet 85:288-292.
3. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995): Inherited microdeletions in Angelman and Prader-Willi syndromes define an imprinting centre on chromosome 15. Nat Genet 9:395-400.
4. Bunyan DJ, Robinson DO, Collins AL, Cockwell AE, Bullman HMS, Whittaker PA (1994): Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy. Hum Genet 93.541-544.
5. Bunyan DJ, Crolla JA, Collins AL, Robinson DO (1995): Fluorescent in situ hybridization studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions. Hum Genet 95: 43-45.
6. Butler MG (1995): High-resolution chromosome analysis and fluorescent in situ hybridization in patients referred for Prader-Willi/ Angelman syndrome. Am J Med Genet 56:420-422.
7. Cassidy SB (1984): Prader-Willi syndrome. Curr Probl Pediatr 14: 1-55.
8. Cassidy SB, Thuline HC, Holm VA (1984): Deletion of chromosome 15(q11-13) in a Prader-Labhart-Willi syndrome clinic population. Am J Med Genet 17:485-495.
9. Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR (1996): Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 58:484-490.
10. Consevage MW, Seip JR, Belchis DA, Davis AT, Baylen BG, Rogan RK (1996): Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am J Cardiol 77:1023-1025.
11. Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn BA (1994): Comparison of high-resolution chromosome banding and fluorescent in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet 52:85-91.
12. Gardner RJM, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ (1994): Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 31:108-114.
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. Goh K, Herrmann MA, Campbell RG, Thompson D (1984): Abnormal chromosome in Prader-Willi syndrome. Clin Genet 26:597-601.
15. Gosden CM, Davidson C, Robertson M (1992): Lymphocyte culture. In Rooney DE, Czepulkowski BH (eds): "Human Cytogenetics, A Practical Approach," Vol. 1. Oxford, England: IRL Press.
16. 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.
17. Hook EB (1977): Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29:94-97.
18. Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T, Latt SA (1987): Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance. Am J Med Genet 28:45-53.
19. Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope M, Prockup DJ (1992): Substitution of asparatate for glycine 1018 in the type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos syndrome: The mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Am J Hum Genet 51: 497-507.
20. Kousseff BG (1980): Chromosome abnormalities in Prader-Willi syndrome. Clin Genet 18:364-366.
21. Kousseff BG (1982): The cytogenetic controversy in the Prader-Labhart-Willi syndrome. Am J Med Genet 13:431-439.
22. Kousseff BG, Diamond T, Essig Y, Miller K, Tedesco T (1987): Unique mosaicism in Prader-Labhert-Willi syndrome-A contiguous gene or aneuploidy syndrome. Am J Med Genet 28:803-811.
23. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan SB, Crawford JD (1981): Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304:325-329.
24. Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ (1982): Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases. Am J Hum Genet 34:278-285.
25. Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X (1994): Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407.
26. Lejuene J, Maunoury C, Prieur M, Van den Akker J (1979): A jumping translocation (5p;15q), (8q;15q) and (12q;15q). Ann Genet (Paris) 22:210-213 (in French).
27. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL (1988): Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 319:999-1003.
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. Michaelson KF, Lundsteen C, Hansen FJ (1979): Prader-Willi syndrome and chromosomal mosaicism. Clin Genet 16:147-150.
30. Miller SA, Dykes DD, Poleaky HF (1988): A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
31. Moss C, Jones DO, Blight A, Bowden PE (1995): Birthmark due to cutaneous mosaicism for keratin 10 mutation. Lancet 345:596.
32. Örstavik KH, Tangsrud SE, Kiil R, Hansteen I-L, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielson K (1992): Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. Am J Med Genet 44:534-538.
33. Paller AS, Syder AJ, Chan Y-M, Qian-Chun Y, Hutton E, Tadini G, Fuchs E (1994): Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 331:1408-1415.
34. Park VP, Gustashaw KM, Wathen TM, Zinn AB, Rush PW (1991): Interstitial telomere sequences in a patient with PWS and a jumping translocation. Am J Hum Genet [Suppl] 49:305.
35. Patel PI, Heju Z, Zori RT, Zackowski JL, Breenberg F, Lupski JR (1992): Mosaicism for del(17)(p11.2): Clinical cytogenetics and molecular analysis of two cases. Am J Hum Genet [Suppl] 51:12.
36. Patil SR, Hauschildt B, Wilson D, Headley C, Greally M, Hanson J, Donlon T (1992): Mosaicism for deletion in sporadic and familial cases. Am J Med Genet 42:237-238.
37. Prader A, Labhart A, Willi H (1956): Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigen zustand im Neugeborenenalter. Schweiz Med Wochenschr 86:1260-1261.
38. Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N (1994): Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions. Am J Med Genet 50:64-67.
39. Seabright M (1971): A rapid banding technique for human chromosomes. Lancet 2:971-972.
40. Tajara EH, Gagliardi ART, Varella-Garcia M (1982): The Prader-Willi syndrome and mosaicism for an extra chromosome. Rev Bras Genet 5:209-216.
41. Trent RJ, Volpato F, Smith A, Lindeman R, Wong M-K, Warne G, Haan E (1991): Molecular and cytogenetic studies of Prader-Willi syndrome. J Med Genet 28:649-654.
42. Wallis GA, Starman BJ, Zinn AB, Byers P (1990): Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the α1(1) gene (COL1AI) of type I collagen in a parent. Am J Hum Genet 46: 1034-1040.
43. Weber JL, May PE (1989): Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396.
44. Wenger SL, Hanchett JM, Steele MW, Maier BV, Golden WL (1987): Clinical comparison of 59 Prader-Willi syndrome patients with and without the 15(q12) deletion. Am J Med Genet 28:881-887.
45. 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 Prader-Willi syndrome. Am J Med Genet 54:219-226.
46. Wulfberg EA, Sparkes RS, Klisak IJ, Gurfield WB (1982): A (15 → 1) translocation in a patient mosaic for presence and absence of an isodic(15p). Am J Med Genet 13:417-421.
47. Wyandt HE, Patil S, Shah HO, Hanson JW, Zellwenger H, Kelly TE, Dolan LM, Wilson WG (1981): Problems in the detection of 15q deletion in patients with Prader-Willi syndrome. Am J Hum Genet 33:127.