Cytogenetic testing for Williams syndrome

Mayo Clinic Proceedings

Volumn 71, Issue 1, 1996, Pages 67-68

  Jalal, Syed M ^a   Crifasi, Pamela A ^a   Karnes, Pamela S ^a   Michels, Virginia V ^a  

^a MAYO CLINIC ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; SHORT SURVEY; WILLIAMS BEUREN SYNDROME;

EID: 0030031942     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.4065/71.1.67     Document Type: Article

References (7)

1. Williams JC, Barratt-Boyes BG, Löwe JB. Supravalvular aortic stenosis. Circulation 1961; 24:1311-1318
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962; 26:1235-1240
3. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletions of the elastin gene at 7ql 1.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995; 56:1156-1161
4. Morris C.A, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. JPediatr 1988; 113:318-326
5. Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ, et al. Autosomal dominant Supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet 1993; 2:869-873
6. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5:11-16
7. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 1995; 57:49-53