Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

Literature DB >> 8074155

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

L Boccone¹, A Meloni, A M Falchi, V Usai, A Cao.

Abstract

This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region.

Entities: Disease

Mesh：

Year: 1994 PMID： 8074155 DOI： 10.1002/ajmg.1320510317

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

Keyword Cloud
Cited

9 in total

Review 1. A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors: T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal: J Med Genet Date: 1997-09 Impact factor: 6.318

Review 2. Balanced translocations in mental retardation.

Authors: Geert Vandeweyer; R Frank Kooy
Journal: Hum Genet Date: 2009-04-05 Impact factor: 4.132

3. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

Authors: H S Harrar; S Jeffery; M A Patton
Journal: J Med Genet Date: 1995-10 Impact factor: 6.318

4. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Authors: M Warburg; M Bugge; K Brøndum-Nielsen
Journal: J Med Genet Date: 1995-01 Impact factor: 6.318

5. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

Authors: Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Paul De Sutter; Koen Devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner Veitia; Ludwine Messiaen
Journal: Am J Hum Genet Date: 2003-01-14 Impact factor: 11.025

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

Review 1. A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Review 2. Balanced translocations in mental retardation.

3. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.

4. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

5. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

6. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

7. Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Review 8. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.

9. Clearing the Haze: Navigating Corneal Refractive Surgery in Patients with Posterior Polymorphous Corneal Dystrophy.