Literature DB >> 7815425

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

J Wolstenholme1, J Brown, K G Masters, C Wright, C J English.   

Abstract

A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.

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Mesh：

Year:  1994        PMID： 7815425      PMCID： PMC1050030          DOI： 10.1136/jmg.31.8.647

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  Further evidence for the location of the BPES gene at 3q2.

Authors:  C E de Die-Smulders; J J Engelen; J M Donk; J P Fryns
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

2.  Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.

Authors:  S A Al-Awadi; K K Naguib; T I Farag; A S Teebi; A Cuschieri; S A Al-Othman; T S Sundareshan
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

3.  Interstitial deletion of the long arm of chromosome 3.

Authors:  J T Martsolf; M Ray
Journal:  Ann Genet       Date:  1983

4.  Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

Authors:  R A Williamson; M A Donlan; C R Dolan; H C Thuline; M T Harrison; J G Hall
Journal:  Am J Med Genet       Date:  1981

5.  The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

Authors:  J Zlotogora; M Sagi; T Cohen
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

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

Authors:  J P Fryns; P Strømme; H van den Berghe
Journal:  Clin Genet       Date:  1993-09       Impact factor: 4.438

7.  Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

Authors:  A Smith; I S Fraser; R P Shearman; P Russell
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

Review 8.  Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

Authors:  H Fujita; J Meng; M Kawamura; N Tozuka; F Ishii; N Tanaka
Journal:  Am J Med Genet       Date:  1992-11-01

Review 9.  Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Authors:  M Alvarado; M Bocian; A P Walker
Journal:  Am J Med Genet       Date:  1987-08

10.  Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.

Authors:  Y Fukushima; K Wakui; T Nishida; Y Ueoka
Journal:  Am J Med Genet       Date:  1991-09-15
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  7 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.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.

Authors:  Risa Teshiba; Kouji Masumoto; Genshiro Esumi; Kouji Nagata; Yoshiaki Kinoshita; Tatsuro Tajiri; Tomoaki Taguchi; Ken Yamamoto
Journal:  Pediatr Surg Int       Date:  2011-02       Impact factor: 1.827

4.  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

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

Review 6.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

Review 7.  Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.

Authors:  Erwin Brosens; Nina C J Peters; Kim S van Weelden; Charlotte Bendixen; Rutger W W Brouwer; Frank Sleutels; Hennie T Bruggenwirth; Wilfred F J van Ijcken; Danielle C M Veenma; Suzan C M Cochius-Den Otter; Rene M H Wijnen; Alex J Eggink; Marieke F van Dooren; Heiko Martin Reutter; Robbert J Rottier; J Marco Schnater; Dick Tibboel; Annelies de Klein
Journal:  Front Pediatr       Date:  2022-02-03       Impact factor: 3.418
  7 in total

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