Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

American Journal of Medical Genetics

Volumn 71, Issue 1, 1997, Pages 106-110

  Gunay Aygun, M ^a,b   Heeger, S ^a,b   Schwartz, S ^a,b   Cassidy, S B ^a,b  

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

^b Center for Human Genetics   (United States)

Author keywords

15q deletion; Diagnostic delay; Genotype phenotype correlation; Hypotonia; Prader Willi Syndrome; Uniparental disomy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; EARLY DIAGNOSIS; FACE MALFORMATION; FEMALE; GENOTYPE; HUMAN; HYPERPHAGIA; HYPOPIGMENTATION; INFANT; LOW BIRTH WEIGHT; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; ONSET AGE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE; PRADER-WILLI SYNDROME; RETROSPECTIVE STUDIES;

EID: 0030924840     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970711)71:1<106::AID-AJMG19>3.0.CO;2-Q     Document Type: Article

References (38)

1. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfür Committee (1996): Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHu/ACMG Test and Technology Transfer committee. Am J Hum Genet 58:1085-1088.
2. Anlonarakis SE, Blouin JL, Mäher J, Avmopoulos D, Themas G. Talbot CC Jr (1993): Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum Genet 52:1145-1152.
3. Beldjord C, Henry I, Bennai C, Vanhaeke D, Lahie D (1992): Uniparental disomy: A novel mechanism for thalassemia major. Blood 80:287-289.
4. Brzustowicz LM, Allitto BA, Matseoane D, Thevc R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Kocnigsberger MR, GilHam TC, Handelin BL (1994): Paternal isodisomy for chromosome 5 in u child wilh spinal muscular atrophy. Am J Hum Genet 54:482-488.
5. Suiting K, Saitoh S, Gross S, DiUrich B, Schwartz S, Nichoils RD, Horsthemke B (1995): Inherited rnicrodeletions in the Angelman and PraderWilli syndromes define an imprinting centre on human chromosome 15. Nature Genet 9:395-400.
6. Butler MG (1989): Hypopignientation: A common feature of the PraderLabhart-Willi syndrome. Am J Hum Genet 45:140-146.
7. Butler MG, Meaney FJ, Palmer SG (1966): Clinical and cytogenetie survey of 39 individuals with Pracer-Labhart-Willi syndrome. Am J Mod Genet 23:793-809.
8. Cassidy SB (1984): Prader-Willi syndrome. Curr Probl Pediatr 14:1-55.
9. Cassidy SB 11995): Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Molec Mutagen 25:13-20.
10. Cassidy SB, T.ai L, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992): Trisomy 15 with loss of the paternal 15 as a cause of Praocr-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708.
11. Cassidy SB, Forsythe M, Heeger S, Nichoils RD, Schork K, Renn P, Schwartz S (1997): Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 88:433-440.
12. Eggerding FA, Schonberg SA, Chebab FF, Norton ME, Cox VA, Epstein CJ (1994): Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55:253-265.
13. Engei E, DeLozier-Blanchet CD (1991): Uniparentai disomy, isodisomy and imprinting: Probable effects in man and strategies for their detection. Am J Med Genet 40:432-439.
14. Gillessen-Xaesbach G, Robinson W, Lohmann D, Kaya-Westerioh S, Passarge E, Horstnemke B (1995): Genotype-phenotype correlation in a seriös of 167 deletion and non-aeletion patients with Prader-Wilii syndrome. Hum Genet 96:638-645.
15. Harrison K, Eisenger K, Anyane-Yeboa X, Brown S (1995): Materna, uni-parental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 58:147-151.
16. Healey S, Poweil F, Battersby M, Chenevix-Trench G, McGill J (1994): Distinct pher.otype in maternal unipurental disomy of chromosome 14. Am J Med Genet 51:147-149
17. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenwag LK, Whitman BY, Greenberg F (1993): Prader-Willi syndrome: Consensus diagnostic criteria. Pediatr 01:398-402.
18. Kalousek DK, I.anglois S, Barrett I, Yam i, Wilson DR, Howard-Peebles PX, Juhnson AIP, Giorgiutti E (1993): Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-18.
19. Kalousek DK, Barrett I J1994): Genomic imprinting related to prenatal diagnosis. Prenat Diag 14:1191-1201.
20. Kalousek DK, Langlois S, Harrison KJ, Wilson RD, McGillivray BC, Yong SL, Barrett 1J, Johnson M, Howard-Peebles P (1994): Confined placental mosaicism and uniparental disomy. Am J Hum Gene;, 55:A9.
21. Ldi LW, Erickson RP, Cassidy SB (1993): Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome. Am J Dis Child 147:1217-1223.
22. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK (1995): Prenatal and postnatal growtn failure associated with maternal heterodisomy for chromosome 7. J Med Genet 52:871-875.
23. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenen SB, Crawford JD (1981;: Deletion of chromosome 15 as a cause of Prader-Willi syndrome. New Eng J Med 304:325-329.
24. Ledbetter DH, Engel E (1995): Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
25. 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. New Eng J Med 326:1599-1607.
26. Mitchell J, Schinzei A, Langlois S, Giliesaen-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-Wiili syndrome: Sex specific differences. Arn J Med Genet 65:133-136.
27. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989): Genetic imprinting suggested by maternai heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
28. Fapenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG (1995): Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 59:271-275.
29. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR (1992): Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromasy. Am J Hum Genet 50:690-699.
30. Purvis-Smith SG, Saville T, Manass S. Yip MY, Lam-Po-Tang PRL, Duffy B, Johnston H, Leight D, McDonald B (1992): Uniparental disomy 15 resulting from correction of an initial trisomy 15. Am J Hum Genet 50:1348-1350.
31. Reis A, Dittrich B, Greger V, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994): Imprinting mutations suggested by methylation patterns in familiai Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747.
32. Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M, Prader A, Schinzei A (1991): Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234.
33. Saitoh S, Buiting K, Kogan PK, Buxton JL, Driscoll DJ, Arnemann J, Rainer K. Malcolm S, Horsthemke B, Nichoiis HD (1996): Minimal definition of the imprinting center ana fixation of a chromosome 15qll-ql3 epigenotype by imprinting mutations. Proc Natl Acad Sei 93:7811-7815.
34. Spotila LD, Seredu L, Prockop DJ (1992): Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51:1396-1405.
35. Torfs CP, Curry CJR (1993): Familial cases of gastroschisis in a population-based registry. Am J Med Genet 45:465-467.
36. Welch TR, Beischel LS, Choi E, alakrishnan K, Bishof NA (1990): Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 86:675-678.
37. Wiesner GL, Bendel CM, Olds DP, White JG, Arthur DC, Ball DW, King RA , 1987): Kypopigrnentation in the Prader-Willi syndrome. Am J Med Genet 40:451-442.
38. Woodage T, Prasad M, Dixon JW, Seiby RE, Romain DR, ColumoanoGreen LM, Graham D. Rogan PK, Selp AS. Trent RJ >1994>: Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet 55:74-80.