Literature DB >> 1442882

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

H Fujita1, J Meng, M Kawamura, N Tozuka, F Ishii, N Tanaka.   

Abstract

We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome."

Entities:  

Mesh：

Year:  1992        PMID： 1442882     DOI： 10.1002/ajmg.1320440409

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


  12 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.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  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

5.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

6.  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

7.  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

8.  Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Authors:  Andrey Shuvarikov; Ian M Campbell; Piotr Dittwald; Nicholas J Neill; Martin G Bialer; Christine Moore; Patricia G Wheeler; Stephanie E Wallace; Mark C Hannibal; Michael F Murray; Monica A Giovanni; Deborah Terespolsky; Sandi Sodhi; Matteo Cassina; David Viskochil; Billur Moghaddam; Kristin Herman; Chester W Brown; Christine R Beck; Anna Gambin; Sau Wai Cheung; Ankita Patel; Allen N Lamb; Lisa G Shaffer; Jay W Ellison; J Britt Ravnan; Paweł Stankiewicz; Jill A Rosenfeld
Journal:  Hum Mutat       Date:  2013-08-13       Impact factor: 4.878

9.  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

10.  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
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