Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

Human Genetics

Volumn 99, Issue 1, 1997, Pages 56-61

  Brøndum Nielsen, Karen ^a   Beck, Bente ^b   Gyftodimou, Jolanda ^c   Hørlyk, Henning ^d   Liljenberg, Ulf ^e   Petersen, Minna Bloch ^c   Pedersen, Winni ^a   Petersen, Michael B ^f   Sand, Annie ^a   Skovby, Flemming ^g   Stafanger, Gerd ^g   Zetterqvist, Per ^a   Tommerup, Niels ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Co Ctr Multihandicapped Children ^*  (Denmark)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d HILLERØD HOSPITAL   (Denmark)

^e Specialistläkargruppen   (Sweden)

^f ROSKILDE HOSPITAL   (Denmark)

^g Rigshospitalet   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL ARTICLE; DNA POLYMORPHISM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERCALCEMIA; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DINUCLEOTIDE REPEATS; DNA; ELASTIN; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; POLYMORPHISM, GENETIC; WILLIAMS SYNDROME;

EID: 0031060689     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050311     Document Type: Article

References (19)

1. Borg I, Delhanty JDA, Baraitser M (1995) Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. J Med Genet 32:692-696
2. Burn J (1986) Syndrome of the month. Williams syndrome. J Med Genet 23:389-395
3. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morisette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154
4. Ewart AK, Morris CA, Ensing GJ, Loker J, Moore C, Leppert M, Keating M (1993a) A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. Proc Natl Acad Sci USA 90:3226-3230
5. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT (1993b) Hemizygygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5:11-15
6. Foster K, Ferrell R, King-Underwood L, Povey S, Attwood J, Rennick R, Humphries SE, Henney AM (1993) Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet 57:97-106
7. Giddins NG, Finley JP, Nanton MA, Roy DL (1989) The natural course of supravalvular aortic stenosis and peripheral pulmonary artery stenosis in Williams syndrome. Br Heart J 62:315-319
8. Gilbert-Dussardier B, Bonneau D, Gigarel N, Merrer ML, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Ayme S, Weissenbach J, Mattei MG, Lyonnet S, Munnich A (1995) A novel microsatellite DNA marker locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet 56:542-544
9. Hallidie-Smith KA, Karas S (1988) Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child 63:809-813
10. Hitman GA, Garde L, Daoud W. Snodgrass GJ, Cohen RD (1989) The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome. J Med Genet 26:609-613
11. Kotzot D, Bernasconi F, Brecevis L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti-Furga A, Schinzel A (1995) Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr 154:477-482
12. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman A (1995) Strong correlation of elastin deletions, detected by FISH, with Williams syndrome. Evaluation of 235 patients. Am J Hum Genet 57:49-53
13. Mari A, Amati F, Mingarelli R, Gianotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B (1995) Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Hum Genet 96:444-449
14. Morris CA, Thomas IT, Greenberg F (1993) Williams syndrome: autosomal dominant inheritance. Am J Med Genet 47:478-481
15. Nickerson E, Greenberg F, Keating MT, Caskill C, Shaffer LG (1995) Deletions of the elastin gene at 7q11.23 occur in 90% of patients with Williams syndrome. Am J Hum Genet 56:1156-1161
16. Perez-Jurado LA, Peoples R, Kaplan P, Mariman ECM, Francke U (1994) Deletions and candidate genes in Williams syndrome. Am J Hum Genet 55:A42
17. Petersen MB, Frantzen M, Antonarakis SE, Warren AC, Van Broeckhoven C, Chakravarti A, Cox TK, Lund C, Olsen B, Poulsen H, Sand A, Tommerup N, Mikkelsen M (1992) Comparative study of microsatellite and cytogenetic markers for detecting the origin of the non-disjoined chromosome 21 in Down syndrome. Am J Hum Genet 51:516-525
18. Robinson WP, Waslynka J, Bernasconi F, Wang M, Clark S, Kotzot D, Schinzel A (1996) Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. Genomics 34:17-23
19. Tromp G, Christiano A, Goldstein N, Indik Z, Boyd C, Rosenbloom J, Deak S, Prockop D, Kuivaniemi H (1991) A to G polymorphism in ELN gene. Nucleic Acids Res 19:4314