Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1342-1352

  Browne, C E ^a   Dennis, N R ^b   Maher, E ^c   Long, F L ^a   Nicholson, J C ^a   Sillibourne, J ^a   Barber, J C K ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA HYBRIDIZATION; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HUMAN TISSUE; INFANT; MALE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SPEECH DISORDER;

EID: 0031444629     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301624     Document Type: Article

References (43)

1. Bedell MA, Jenkins NA, Copeland NG (1996) Good genes in bad neighbourhoods. Nat Genet 12:229-232
2. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA (1994) Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol 36: 736-742
3. Butler MG (1990) Prader-Willi syndrome - current understanding of cause and diagnosis. Am J Med Genet 35: 319-332
4. Cheng S-D, Spinner NB, Zackai EH, Knoll JHM (1994) Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759
5. Choo KH, Earle E, Vissel B, Filby RG (1990) Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15. Genomics 7: 143-151
6. Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malsolm S (1993) Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 30: 529-531
7. Clayton-Smith J, Webb T, Pembrey ME, Nichols M, Malcolm S (1992) Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. Hum Genet 88:376-378
8. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, et al (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934
9. Crolla JA, Harvey JF, Sitch FL, Dennis NR (1995) Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95: 161-170
10. de France HF, Beemer FA, Ippel PF (1984) Duplication in chromosome 15q in a boy with the Prader-Willi syndrome: further cytogenetic confusion. Clin Genet 26:379-382
11. 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
12. Fuhrmann-Rieger A, Kohler A, Fuhrmann W (1984) Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity - Prader-Willi or Cohen syndrome? Clin Genet 25:347-352
13. Higgins MJ, Hungshu W, Shtromas I, Haliotis T, Roder JC, Holden JJA, White BN (1985) Organization of a repetitive human 1.8 kb Kpnl sequence localized in the heterochromatin of chromosome 15. Chromosoma 93:77-86
14. Holowinsky S, Black SH, Howard-Peebles PN, Mutirangura A, Christian S, Ledbetter DH, Reynolds J (1993) Triplication 15q11-q13 in two unrelated patients with hypotonia, cognitive delays and visual impairment. Am J Hum Genet Suppl 53:125
15. Jalal SM, Persons DL, Dewald GW, Lindor NM (1994) Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 52:495-497
16. Kallioniemi O-P, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D (1994) Optimising comparative genomic hybridisation for analysis of DNA sequence copy number changes in solid tumours. Genes Chromosom Cancer 10: 231-243
17. 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
18. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, et al (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q-11) by YAC cloning and FISH analysis. Hum Mol Genet 6:417-425
19. Leana-Cox J, Jenkins L, Palmer CG, Planner R, Sheppard L, Flejter WL, Zackowski J, et al (1994) Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet 54:748-756
20. 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
21. Long FL, Billam L, Duckett DP, Williams D, Crolla JA. Triplication of 15q11-q13 with mar(15) in a female with developmental delay. J Med Genet (in press)
22. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1991) Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201
23. Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S (1987) Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28:829-838
24. Mattei JF, Mattel MG, Giraud F (1983) Prader-Willi syndrome and chromosome 15: a clinical discussion of 20 cases. Hum Genet 64:356-362
25. McMullan D, Larkins S, Davis G, Farndon P, Davison EV (1996) Duplication of the 15q11.2 region in a patient with a t(5;15)(q13;q11.2) with no apparent phenotypic effect. J Med Genet 33 Suppl 1:S48
26. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette M-F, Mattei M-G (1996) Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100
27. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
28. Mutirangura A, Kuwano A, Ledbetter SA, Chinault AC, Ledbetter DH (1992a) Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1:139
29. Mutirangura A, Ledbetter SA, Kuwano A, Chinault AC, Ledbetter DH (1992b) Dinucleotide repeat polymorphism at the GABAa receptor beta3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1:67
30. Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, et al (1992) Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 2:265-269
31. Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH (1987) Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am J Med Genet 28:791-802
32. Pinkel D, Straume T, Gray JW (1988) Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938
33. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, et al (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
34. Robinson WP, Binkert F, Gine R, Vazques C, Miller W, Rosenkranz W, Schinzel A (1993a) Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet 1:37-50
35. Robinson WP, Bottani A, Yagang X, Balakrishnan J, Binkert F, Mächler M, Prader A, et al (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234
36. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, et al (1993b) 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
37. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP (1994) Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803
38. 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
39. Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, Ferguson-Smith MA, Nordenskjold M, et al (1992) Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosom Cancer 4:257-263
40. Webb T (1994) Inv dup(15) supernumerary marker chromosomes. J Med Genet 31:585-594
41. Webb T, Clayton-Smith J, Cheng XJ, Knoll JHM, Lalande M, Pembrey ME, Malcolm S (1992) Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. J Med Genet 29:921-924
42. 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
43. Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H (1990) Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35:350-353