Literature DB >> 7747765

Translocation 4p;21q identified by FISH in a case previously described as "presumptive monosomy 21".

X L Yao, E C Jenkins.   

Abstract

Mesh:

Year:  1994        PMID: 7747765     DOI: 10.1002/ajmg.1320520418

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


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  3 in total

1.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

2.  Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.

Authors:  Svetlana G Vorsanova; Ivan Y Iourov; Victoria Y Voinova-Ulas; Anja Weise; Victor V Monakhov; Alexei D Kolotii; Ilia V Soloviev; Petr V Novikov; Yuri B Yurov; Thomas Liehr
Journal:  Mol Cytogenet       Date:  2008-06-19       Impact factor: 2.009

3.  Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.

Authors:  Valentine Marquet; Dominique Bourgeois; Philippe De Mas; Laurence Bouneau; Adeline Vigouroux-Castera; Romain Molignier; Patrick Calvas
Journal:  Clin Case Rep       Date:  2015-08-20
  3 in total

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