Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

American Journal of Medical Genetics

Volumn 69, Issue 1, 1997, Pages 107-111

  Castorina, Pierangela ^a   Selicorni, Angelo ^a   Bedeschi, Francesca ^a   Dalprà, Leda ^a   Larizza, Lidia ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b Dipartimento di Biologia   (Italy)

Author keywords

clinical signs; FISH; monozygotic twins; Williams syndrome

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; INGUINAL HERNIA; MALE; MONOZYGOTIC TWINS; PHENOTYPE; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA, SATELLITE; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; PHENOTYPE; POLYMORPHISM, GENETIC; TWINS, MONOZYGOTIC; WILLIAMS SYNDROME;

EID: 0031040010     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970303)69:1<107::AID-AJMG21>3.0.CO;2-S     Document Type: Article

References (12)

1. Crichton JV, Morgan JC (1967): Hypercalcemia and supravalvular aortic stenosis. Lancet 1:1104.
2. 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. Nature Genet 5:11-16.
3. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, et al (1995): Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am J Hum Genet 57:49-53.
4. Morris CA, Thomas IT, Greenberg F (1993): Williams syndrome: Autosomal dominant inheritance. Am J Med Genet 47:478-481.
5. Murphy MB, Greenberg F, Wilson G, Hughes M, DiLiberti J (1990): Williams syndrome in twins. Am J Med Genet Suppl. 6:97-99.
6. Neilson G, Hossack KF (1978): Supravalvular aortic stenosis in a twin. Br Heart J 40:1190-1192.
7. Nickerson E, Greenberg F, Keating MT, McCaskill 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.
8. Oorthuys JFE (1984): Monozygotic tweeling met het Williams-Beuren of "elfin face" syndroom. T Kindergeneesk 52:197-200.
9. Page HL, Vogel JHK, Pryor R, Blount SG (1965): Unusual obervations in supravalvular aortic stenosis (abstract). Circulation 32 (suppl): 166.
10. Pankau R, Gosch A, Simeoni E, Wessel A (1993): Williams-Beuren syndrome in monozygotic twins with variable expression. Am J Med Genet 47:475-477.
11. Sadler RS, Robinson LK, Verdaasdonk KR, Gingell R (1993): The Williams syndrome: Evidence for possible autosomal dominant inheritance. Am J Med Genet 47:468-470.
12. Wiltse HE, Goldbloom RB, Antia AU, Ottesen OE, Rowe RD, Cooke RE (1966): Infantile hypercalcemia syndrome in twins. N Engl J Med 275:1157-1160.