Literature DB >> 1951442

Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)).

J P Fryns1, J Bulcke, P Verdu, H Carton, A Kleczkowska, H Van den Berghe.   

Abstract

We present the history and data on a 24-year-old man with clinical and neurological symptoms similar to the findings in patients with late-onset Cockayne syndrome. Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.

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Year:  1991        PMID： 1951442     DOI： 10.1002/ajmg.1320400320

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


  6 in total

1.  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Authors:  Paweł Stankiewicz; Shashikant Kulkarni; Avinash V Dharmadhikari; Srirangan Sampath; Samarth S Bhatt; Tamim H Shaikh; Zhilian Xia; Amber N Pursley; M Lance Cooper; Marwan Shinawi; Alex R Paciorkowski; Dorothy K Grange; Michael J Noetzel; Scott Saunders; Paul Simons; Marshall Summar; Brendan Lee; Fernando Scaglia; Florence Fellmann; Danielle Martinet; Jacques S Beckmann; Alexander Asamoah; Kathryn Platky; Susan Sparks; Ann S Martin; Suneeta Madan-Khetarpal; Jacqueline Hoover; Livija Medne; Carsten G Bonnemann; John B Moeschler; Stephanie E Vallee; Sumit Parikh; Polly Irwin; Victoria P Dalzell; Wendy E Smith; Valerie C Banks; David B Flannery; Carolyn M Lovell; Gary A Bellus; Kathryn Golden-Grant; Jerome L Gorski; Jennifer L Kussmann; Tracy L McGregor; Rizwan Hamid; Jean Pfotenhauer; Blake C Ballif; Chad A Shaw; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Jill A Rosenfeld; Sau Wai Cheung; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2011-11-02       Impact factor: 4.878

2.  The many faces of Cockayne syndrome.

Authors:  Graciela Spivak
Journal:  Proc Natl Acad Sci U S A       Date:  2004-10-19       Impact factor: 11.205

Review 3.  Interstitial deletion of chromosome 10q23: a new case and review.

Authors:  S A Farrell; W Szymonowicz; G Chow; A M Summers
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

Review 4.  Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

Authors:  Isabelle Rapin; Karen Weidenheim; Yelena Lindenbaum; Pearl Rosenbaum; Saumil N Merchant; Sindu Krishna; Dennis W Dickson
Journal:  J Child Neurol       Date:  2006-11       Impact factor: 1.987

5.  A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report.

Authors:  Dalin Fu; Weisheng Lin; Fen Lu; Senjie Du; Min Zhu; Xiaoke Zhao; Jian Tang; Chuan Chen; Xiaoli Chui; Shanmei Tang; Kai Wang; Chuanchun Yang; Bei Han
Journal:  BMC Pediatr       Date:  2021-05-31       Impact factor: 2.125

6.  Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Authors:  Nadège Calmels; Géraldine Greff; Cathy Obringer; Nadine Kempf; Claire Gasnier; Julien Tarabeux; Marguerite Miguet; Geneviève Baujat; Didier Bessis; Patricia Bretones; Anne Cavau; Béatrice Digeon; Martine Doco-Fenzy; Bérénice Doray; François Feillet; Jesus Gardeazabal; Blanca Gener; Sophie Julia; Isabel Llano-Rivas; Artur Mazur; Caroline Michot; Florence Renaldo-Robin; Massimiliano Rossi; Pascal Sabouraud; Boris Keren; Christel Depienne; Jean Muller; Jean-Louis Mandel; Vincent Laugel
Journal:  Orphanet J Rare Dis       Date:  2016-03-22       Impact factor: 4.123
  6 in total

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