Literature DB >> 12431259

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

J R Vermeesch1, E Baten, J-P Fryns, K Devriendt.   

Abstract

Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.

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Year:  2002        PMID: 12431259     DOI: 10.1034/j.1399-0004.2002.620511.x

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


  13 in total

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Journal:  Transl Pediatr       Date:  2015-04

2.  Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

Authors:  Isabel M Carreira; Alexandra Mascarenhas; Eunice Matoso; Ana B Couceiro; Lina Ramos; Andreas Dufke; Marie Mazauric; Rüdiger Stressig; Nadezda Kosyakova; Joana B Melo; Thomas Liehr
Journal:  J Histochem Cytochem       Date:  2007-06-26       Impact factor: 2.479

3.  Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?

Authors:  Roberta Santos Guilherme; Elisabeth Klein; Claudia Venner; Ahmed B Hamid; Samarth Bhatt; Maria Isabel Melaragno; Marianne Volleth; Anna Polityko; Anna Kulpanovich; Nadezda Kosyakova; Thomas Liehr
Journal:  Chromosome Res       Date:  2012-10-18       Impact factor: 5.239

Review 4.  Ring chromosomes: from formation to clinical potential.

Authors:  Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal:  Protoplasma       Date:  2017-09-12       Impact factor: 3.356

5.  Mechanisms of ring chromosome formation, ring instability and clinical consequences.

Authors:  Roberta S Guilherme; Vera F Ayres Meloni; Chong A Kim; Renata Pellegrino; Sylvia S Takeno; Nancy B Spinner; Laura K Conlin; Denise M Christofolini; Leslie D Kulikowski; Maria I Melaragno
Journal:  BMC Med Genet       Date:  2011-12-21       Impact factor: 2.103

6.  Ring chromosome 15: characterization by array CGH.

Authors:  Ian A Glass; Katherine A Rauen; Emily Chen; Jillian Parkes; Donna G Alberston; Daniel Pinkel; Philip D Cotter
Journal:  Hum Genet       Date:  2005-11-03       Impact factor: 4.132

7.  Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Authors:  Li-Ping Tsai; Kuei-Fang Lee; Jye-Siung Fang; Ingrid Y Liu
Journal:  Mol Cytogenet       Date:  2011-02-08       Impact factor: 2.009

8.  Telomere shortening and telomere position effect in mild ring 17 syndrome.

Authors:  Cecilia Surace; Francesco Berardinelli; Andrea Masotti; Maria Cristina Roberti; Letizia Da Sacco; Gemma D'Elia; Pietro Sirleto; Maria Cristina Digilio; Raffaella Cusmai; Simona Grotta; Stefano Petrocchi; May El Hachem; Elisa Pisaneschi; Laura Ciocca; Serena Russo; Francesca Romana Lepri; Antonella Sgura; Adriano Angioni
Journal:  Epigenetics Chromatin       Date:  2014-01-07       Impact factor: 4.954

9.  Molecular characterization of a novel ring 6 chromosome using next generation sequencing.

Authors:  Rui Zhang; Xuan Chen; Peiling Li; Xiumin Lu; Yu Liu; Yan Li; Liang Zhang; Mengnan Xu; David S Cram
Journal:  Mol Cytogenet       Date:  2016-04-21       Impact factor: 2.009

10.  Ring chromosome 9 in a dysmorphic child.

Authors:  Jayesh Sheth; Rajesh Joshi; Frenny Sheth
Journal:  Indian J Pediatr       Date:  2007-05       Impact factor: 5.319

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