Literature DB >> 6655678

De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).

H M Herr, C I Scott, S J Horton.   

Abstract

A profoundly retarded, slightly dysmorphic male was re-examined cytogenetically by high resolution GTG banding and found to have a de novo interstitial direct duplication of 15q.

Entities:  

Mesh：

Year:  1983        PMID： 6655678      PMCID： PMC1049189          DOI： 10.1136/jmg.20.6.473

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

2.  [Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

Authors:  B Zabel; W Baumann
Journal:  Ann Genet       Date:  1977-12

3.  A de novo tandem duplication 15(q21 leads to qter) mosaic.

Authors:  M Y Yip; A Parsons; M Hultén
Journal:  Clin Genet       Date:  1982-07       Impact factor: 4.438
  3 in total
  2 in total

1.  Williams Syndrome and 15q Duplication: Coincidence versus Association.

Authors:  Aditi Khokhar; Swashti Agarwal; Sheila Perez-Colon
Journal:  Mol Syndromol       Date:  2016-11-15

2.  A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

Authors:  Haiming Yuan; Zhe Meng; Lina Zhang; Xiangyang Luo; Liping Liu; Mengfan Chen; Xinwei Li; Weiwei Zhao; Liyang Liang
Journal:  Mol Cytogenet       Date:  2016-01-11       Impact factor: 2.009
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.