Literature DB >> 2579554

Brief clinical report: interstitial deletion of the long arm of chromosome 10: del(10)(q11.2q21).

J J Holden, E A MacDonald.   

Abstract

A de novo interstitial deletion of part of the long arm of chromosome 10 [del(10)(q11.2q21)] was identified by GTG (G-bands by trypsin using Giemsa) banding in a 9-year-old girl with mental retardation and minor anomalies. Only one other case of a similar deletion has been reported [Ray et al, 1980] and the phenotypic findings of the two cases are compared.

Entities:  

Mesh：

Year:  1985        PMID： 2579554     DOI： 10.1002/ajmg.1320200206

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


  4 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

Review 2.  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 3.  Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

Authors:  M S Fewtrell; P K Tam; A H Thomson; M Fitchett; J Currie; S M Huson; L M Mulligan
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.