Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

American Journal of Medical Genetics

Volumn 68, Issue 4, 1997, Pages 433-440

  Cassidy, S B ^a,c   Forsythe, M ^a   Heeger, S ^a   Nicholls, R D ^a   Schork, N ^a   Benn, P ^b   Schwartz, S ^a  

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

^b UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^c Center for Human Genetics   (United States)

Author keywords

15q deletion; FISH; methylation analysis; microdeletion; Prader Willi syndrome; uniparental disomy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; FACIES; FEMALE; HUMAN; HYPOPIGMENTATION; INFANT; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SKILL; SPEECH DISORDER; UNIPARENTAL DISOMY;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; FACE; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYPOPIGMENTATION; INFANT; INTELLIGENCE; INTELLIGENCE TESTS; MALE; MATERNAL AGE; MENTAL DISORDERS; MIDDLE AGED; PAIN; PRADER-WILLI SYNDROME;

EID: 0031015938     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970211)68:4<433::AID-AJMG12>3.0.CO;2-T     Document Type: Article

References (28)

1. Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A (1994): Angelman syndrome due to uniparental disomy of chromosome 15: A milder phenotype? Am J Med Genet 51:35-40.
2. 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. Nature Genet 9:395-4000.
3. Butler MG, Meaney FJ, Palmer CG (1986): Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23:793-809.
4. Butler MG (1989): Hypopigmentation: A common feature of the Prader-Labhart-Willi syndrome. Am J Hum Genet 45:140-146.
5. Cassidy SB (1984): Prader-Willi syndrome. Curr Probl Pediatr 14:1-55.
6. Cassidy SB (1995): Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Mol Mutagen 25:13-20.
7. Cassidy SB, Lai L-W, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992): Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708.
8. 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.
9. Dittrich B, Robinson W, Knobloch H, Buiting K, Gillessen-Kaesbach G, Horsthemke B (1992): Molecular dignosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation. Hum Genet 90:313-315.
10. Dixon WJ and Massey FJ (1969): "Introduction to Statistical Analysis." New York: McGraw-Hill.
11. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH (1992): The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes. Science 257: 1121-1124.
12. Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B (1995a): Further patients with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Hum Genet 56:328-329.
13. Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B (1995b). DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 32:88-92.
14. Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B (1995c): Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet 96:638-643.
15. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg R (1993): Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
16. LaSalle JM, Lalande M (1995): Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. Nature Genet 9:386-393.
17. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan SB, Crawford JD (1981): Deletions of chromosome 15 as a cause of Prader-Willi syndrome. N Engl J Med 304:325-329.
18. 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. N Engl J Med 326:1599-1607.
19. Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Michaelis RC, Abeliovich D, Lerer I, Schuffenhauer S, Christian S, Guitart M, McFadden DE, Robinson WP (1996): Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences. Am J Med Genet 65:133-136.
20. 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.
21. Nicholls RD (1993): Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: A review. Am J Med Genet 46:16-25.
22. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989): Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
23. Reis A, Dittrich B, Greger V, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994): Imprinting mutations suggested by abnormal methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747.
24. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MTC, Nicholls RD (1993): A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76.
25. Robinson WP, Bottani A, Yagang X, Balakrishnan J, Binkert F, Machler M, Prader A, Schinzel A (1991): Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234.
26. Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Morris M, Schinzel A (1993): Nondisjunction of chromosome 15: Origin and recombination. Am J Hum Genet 53:740-751.
27. Wiesner GL, Bendel CM, Olds DP, White JG, Arthur DC, Ball DW, King RA (1987): Hypopigmentation in the Prader-Willi syndrome. Am J Med Genet 40:431-442.
28. Yunis JJ (1976): High resolution of human chromosomes. Science 191:1263-1270.