Literature DB >> 10978369

Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22.

G Mirza, K Imaizumi, J Ragoussis.   

Abstract

Mesh：

Year:  2000        PMID： 10978369      PMCID： PMC1734676          DOI： 10.1136/jmg.37.9.e22

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


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  2 in total

1.  Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Authors:  Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David W Stockton; Brendan Lee
Journal:  Am J Hum Genet       Date:  2005-05-27       Impact factor: 11.025

2.  SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Authors:  Chiara Magri; Eleonora Marchina; Valeria Bertini; Michele Traversa; Giulia Savio; Alba Pilotta; Giovanna Piovani
Journal:  BMC Med Genet       Date:  2015-07-07       Impact factor: 2.103
  2 in total

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