Literature DB >> 6965843

Partial duplication of the long arm of chromosome 4.

J P Fryns, H van den Berghe.   

Abstract

A 6,5 years old mentally retarded girl with duplication 4(q25 leads to q31) is reported. She presented the major clinical stigmata commonly found in partial 4q trisomy.

Entities:  

Mesh：

Year:  1980        PMID： 6965843

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  3 in total

1.  Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Authors:  Lucie Tosca; Sophie Brisset; François M Petit; Laure Lecerf; Ghislaine Rousseau; Cécile Bas; Mireille Laroudie; Marie-Laure Maurin; Sylvie Tapia; Olivier Picone; Sophie Prevot; Michel Goossens; Philippe Labrune; Gérard Tachdjian
Journal:  Eur J Hum Genet       Date:  2010-04-28       Impact factor: 4.246

2.  A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.

Authors:  Pavlos Fanis; Elisavet Efstathiou; Vassos Neocleous; Leonidas A Phylactou; Adamos Hadjipanayis
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

Review 3.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.