Literature DB >> 8275574

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.

J P Fryns1, P Strømme, H van den Berghe.   

Abstract

We report a 6-year-old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome (blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3-->q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3-q23.

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Year:  1993        PMID： 8275574     DOI： 10.1111/j.1399-0004.1993.tb03867.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 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.  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

3.  Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Authors:  J Wolstenholme; J Brown; K G Masters; C Wright; C J English
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

4.  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.  Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Authors:  Shanshan Hu; Junjing Guo; Binbin Wang; Jing Wang; Zhou Zhou; Guangkai Zhou; Xuchen Ding; Xu Ma; Yanhua Qi
Journal:  Mol Vis       Date:  2011-02-09       Impact factor: 2.367

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

Authors:  Min Xue; Jie Zheng; Qing Zhou; J Fielding Hejtmancik; Yuan Wang; Shouling Li
Journal:  BMC Med Genet       Date:  2015-09-01       Impact factor: 2.103
  6 in total

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