Literature DB >> 8131307

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).

N H Robin1, M Magnusson, D McDonald-McGinn, E H Zackai, N B Spinner.   

Abstract

A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed.

Entities:  

Mesh：

Year:  1993        PMID： 8131307     DOI： 10.1111/j.1399-0004.1993.tb03911.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  DIA1R is an X-linked gene related to Deleted In Autism-1.

Authors:  Azhari Aziz; Sean P Harrop; Naomi E Bishop
Journal:  PLoS One       Date:  2011-01-17       Impact factor: 3.240

2.  Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB.

Authors:  Yu-Tzu Chang; Chung-Hsing Wang; I-Ching Chou; Wei-De Lin; Siew-Yin Chee; Huang-Tsung Kuo; Fuu-Jen Tsai
Journal:  Biomedicine (Taipei)       Date:  2014-08-06

Review 3.  Wisconsin syndrome with brain volume laterality: a case report and review of the literature.

Authors:  Satomi Okano; Yoshio Makita; Kayano Kimura; Ikue Fukuda; Akie Miyamoto; Hajime Tanaka
Journal:  J Med Case Rep       Date:  2022-04-16

4.  Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Authors:  Alessandro Ferraris; Laura Bernardini; Vesna Sabolic Avramovska; Ginevra Zanni; Sara Loddo; Elena Sukarova-Angelovska; Valentina Parisi; Anna Capalbo; Stefano Tumini; Lorena Travaglini; Francesca Mancini; Filip Duma; Sabina Barresi; Antonio Novelli; Eugenio Mercuri; Luigi Tarani; Enrico Bertini; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2013-05-16       Impact factor: 4.123
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.