Literature DB >> 3970071

Deletions of the long arm of chromosome 10.

S D Shapiro, K L Hansen, L M Pasztor, J H DiLiberti, R J Jorgenson, R S Young, C M Moore.   

Abstract

Patients with a partial deletion of the long arm of chromosome 10 are rare. We report eight new cases involving various segments of 10q: one terminal deletion (10q26), four (8;10) translocations resulting in terminal deletions (10q26) and duplications (8q24.3), a de novo interstitial deletion (10q23), an interstitial deletion due to a (10;13) translocation (10q11.2----10q22.1), and a ring (10p15----10q26).

Entities:  

Mesh：

Year:  1985        PMID： 3970071     DOI： 10.1002/ajmg.1320200122

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


  17 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.  Monosomy 10qter: a new case.

Authors:  M Teyssier; C Charrin; J Dutruge; C Rousselle
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation.

Authors:  F Tinsa; Y Chebbi; M Meddeb; D Bousnina; K Boussetta; S Bousnina
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

Review 4.  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

5.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

6.  An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

Authors:  B H Eussen; G Bartalini; L Bakker; P Balestri; C Di Lucca; J O Van Hemel; H Dauwerse; A M van Den Ouweland; C Ris-Stalpers; S Verhoef; D J Halley; A Fois
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

7.  A case of two inversion (10) recombinants in a family.

Authors:  P Roberts; J Williams; M A Sills
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

8.  Terminal deletion of the long arm of chromosome 10.

Authors:  H Curtis; R T Howell; C Cope
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

9.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 10.  Ring chromosome 10: report on two patients and review of the literature.

Authors:  Roberta Santos Guilherme; Chong Ae Kim; Luis Garcia Alonso; Rachel S Honjo; Vera Ayres Meloni; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal:  J Appl Genet       Date:  2012-12-18       Impact factor: 3.240
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.