Literature DB >> 3477100

Deletion of 2p: a cytogenetic and clinical update.

J Neidich, E Zackai, M Aronson, B S Emanuel.   

Abstract

The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.

Entities:  

Mesh:

Substances:

Year:  1987        PMID: 3477100     DOI: 10.1002/ajmg.1320270326

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


  4 in total

1.  An apparent de novo terminal deletion of chromosome 2 (pter----p24:).

Authors:  G L Francis; D B Flannery; J R Byrd; S T Fisher
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

2.  PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Authors:  Hamidreza Khodadadi; Luis J Azcona; Vajiheh Aghamollaii; Mir Davood Omrani; Masoud Garshasbi; Shaghayegh Taghavi; Abbas Tafakhori; Gholam Ali Shahidi; Javad Jamshidi; Hossein Darvish; Coro Paisán-Ruiz
Journal:  Mov Disord       Date:  2016-10-18       Impact factor: 10.338

3.  A region-specific microdissection library for human chromosome 2p23-p25 and the analysis of an interstitial deletion of 2p23.3-p25.1.

Authors:  J Yu; J Qi; S Tong; F T Kao
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

4.  De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.

Authors:  F J Los; J O Van Hemel; H J Jacobs; S L Drop; J J van Dongen
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.