Williams-beuren syndrome and west "syndrome": Causal association or contiguous gene deletion syndrome? [1]

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 213-215

  Tercero, Miguel Fernández Burriel ^a   López, José Carlos Cabrera ^a   Herrero, Milagros Marti ^a   Rodríguez Quiñones, Francisco ^b  

^a Hospital Universitario Materno Infantil de Canarias   (Spain)

^b UNIVERSITY OF READING   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; GENE DELETION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; LETTER; MALE; PHENOTYPE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; WEST SYNDROME; WILLIAMS BEUREN SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; ELASTIN; FEMALE; GENE DELETION; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; SPASM; SYNDROME; WILLIAMS SYNDROME;

EID: 14044258486     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30486     Document Type: Letter

References (16)

1. Bruyere H, Lewis MES, Wood S, MacLeod PJ, Langlois S. 1999. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. Clin Genet 55:173-181.
2. Commission on Classification and Terminology of the International League against Epilepsy. 1989. Revised classification of epilepsies, epileptic syndromes and related disorders. Epilepsia 30:389-399.
3. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5:11-16.
4. Kahler SG, Adhvaryu SG, Helali N, Qumsiyeh MB. 1995. Microscopically visible deletion of chromosome 7 in a child with features of Williams-Beuren syndrome (abstract). Am J Hum Genet 57:117.
5. Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT. 1998. Complete physical map of the common deletion region in Williams syndrome and identification and characterisation of three novel genes. Hum Genet 103:590-599.
6. Metcalfe K. 2000. Williams syndrome: An update on clinical and molecular aspects Arch Dis Child 81:198-200.
7. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
8. Mizugishi K, Yamanaka K, Kuwajima K, Kondo I. 1998. Interstitial deletion of Chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43:1787-1791.
9. Osborne LR. 1999. Williams-Beuren syndrome: Unravelling the mysteries of a microdeletion disorder. Mol Genet Metabol 67:1-10.
10. Trauner D, Bellugi U, Chase C. 1989. Neurologic features of Williams and Down syndrome. Pediatr Neurol 5:166-168.
11. Tsao CY, Westman JA. 1997. Infantile spasms in two children with Williams syndrome. Am J Med Genet 71:54-56.
12. Udwin O. 1990. A survey of adult with Williams syndrome and idiopathic infantile hypercalcemia. Dev Med Child Neurol 32:129-141.
13. Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. 1999. Molecular and clinical correlation study of Williams-Beuren Syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet 86:34-43.
14. Watanabe K. 1998. West syndrome: Etiological and prognostic aspects. Brain Dev 20:1-8.
15. Wong M, Trevathan E. 2001. Infantile spasms. Pediatr Neurol 24:89-98.
16. Zackowski JL, Raffel LJ, Blank CA, Schwartz S. 1990. Proximal interstitial deletion of 7q: A case report and review of the literature. Am J Med Genet 36:328-332.