Literature DB >> 8291545

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

T Jewett1, P N Rao, R G Weaver, W Stewart, I T Thomas, M J Pettenati.   

Abstract

We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23.

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Year:  1993        PMID： 8291545     DOI： 10.1002/ajmg.1320470802

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


  5 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

2.  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

3.  The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

Authors:  Anna Materna-Kiryluk; Krzysztof Kiryluk; Katelyn E Burgess; Arkadiusz Bieleninik; Simone Sanna-Cherchi; Ali G Gharavi; Anna Latos-Bielenska
Journal:  Pediatr Nephrol       Date:  2013-11-30       Impact factor: 3.714

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

Authors:  P Amati; J C Chomel; A Nivelon-Chevalier; S Gilgenkrantz; A Kitzis; J Kaplan; D Bonneau
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132
  5 in total

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