Literature DB >> 21691394

Two generations of identical twins with ELN deletion.

Jasper Katumba-Lunyenya1, Lyndsey Connell, Talal Farha, Rosemary Radley-Smith, Satish Adwani, Neil Wilson, Nick Archer.   

Abstract

We report a family with three generations of an ELN deletion. The grandfather was normal except for two inguinal herniotomies. The first generation identical twins had supravalvular aortic and multiple peripheral pulmonary artery stenoses. The second generation twins died during the neonatal period of myocardial infarcts.

Entities:  

Year:  2009        PMID： 21691394      PMCID： PMC3029432          DOI： 10.1136/bcr.06.2008.0036

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  8 in total

1.  THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

Authors:  A J BEUREN; C SCHULZE; P EBERLE; D HARMJANZ; J APITZ
Journal:  Am J Cardiol       Date:  1964-04       Impact factor: 2.778

2.  Supravalvular aortic stenosis.

Authors:  J C WILLIAMS; B G BARRATT-BOYES; J B LOWE
Journal:  Circulation       Date:  1961-12       Impact factor: 29.690

3.  Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

Authors:  A J BEUREN; J APITZ; D HARMJANZ
Journal:  Circulation       Date:  1962-12       Impact factor: 29.690

4.  Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome.

Authors:  S L Schulman; S Zderic; P Kaplan
Journal:  J Pediatr       Date:  1996-09       Impact factor: 4.406

Review 5.  Sudden death in Williams syndrome: report of ten cases.

Authors:  L M Bird; G F Billman; R V Lacro; R L Spicer; L K Jariwala; H E Hoyme; R Zamora-Salinas; C Morris; D Viskochil; M J Frikke; M C Jones
Journal:  J Pediatr       Date:  1996-12       Impact factor: 4.406

6.  Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

Authors:  L R Osborne; D Martindale; S W Scherer; X M Shi; J Huizenga; H H Heng; T Costa; B Pober; L Lew; J Brinkman; J Rommens; B Koop; L C Tsui
Journal:  Genomics       Date:  1996-09-01       Impact factor: 5.736

7.  Williams-Beuren syndrome in monozygotic twins with variable expression.

Authors:  R Pankau; A Gosch; E Simeoni; A Wessel
Journal:  Am J Med Genet       Date:  1993-09-15

8.  Cardiovascular findings, and clinical course, in patients with Williams syndrome.

Authors:  Eva Bruno; Norma Rossi; Oscar Thüer; Roque Córdoba; Luis E Alday
Journal:  Cardiol Young       Date:  2003-12       Impact factor: 1.093
  8 in total

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