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Literature DB >> 17676371

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.

L K Kochilas¹, D N Abuelo, U Tantravahi.

Abstract

Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.

Entities: Disease Species

Mesh：

Year: 2007 PMID： 17676371 DOI： 10.1007/s00246-007-9013-2

Source DB: PubMed Journal: Pediatr Cardiol ISSN： 0172-0643 Impact factor: 1.655

15 in total

1. Genetics. The critical region in trisomy 21.

Authors: David L Nelson; Richard A Gibbs
Journal: Science Date: 2004-10-22 Impact factor: 47.728

2. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Authors: S Merscher; B Funke; J A Epstein; J Heyer; A Puech; M M Lu; R J Xavier; M B Demay; R G Russell; S Factor; K Tokooya; B S Jore; M Lopez; R K Pandita; M Lia; D Carrion; H Xu; H Schorle; J B Kobler; P Scambler; A Wynshaw-Boris; A I Skoultchi; B E Morrow; R Kucherlapati
Journal: Cell Date: 2001-02-23 Impact factor: 41.582

10. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.

Authors: M T Keating
Journal: Circulation Date: 1995-07-01 Impact factor: 29.690

1 in total

1. A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Authors: Maria Clara Bonaglia; Roberto Giorda; Angelo Massagli; Rita Galluzzi; Roberto Ciccone; Orsetta Zuffardi
Journal: Eur J Hum Genet Date: 2008-09-24 Impact factor: 4.246

1 in total

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.

1. Genetics. The critical region in trisomy 21.

2. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

3. Congenital polyvalvular disease.

4. Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis.

5. Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation.

Review 6. Congenital polyvalvular disease: a review.

7. Congenital heart disease in mice deficient for the DiGeorge syndrome region.

Review 8. Trisomy 2p: analysis of unusual phenotypic findings.

9. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

10. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.

1. A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.