Literature DB >> 25424187

Unusual isochromosome 5p marker chromosome.

Fanny Roulet-Coudrier1, Amine Rouibi, Clotilde Thuillier, Sylvie Bourthoumieu, Aziza Lebbar, Jean-Michel Dupont, Catherine Yardin.   

Abstract

Mesh:

Year:  2014        PMID: 25424187     DOI: 10.1002/ajmg.a.36843

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Authors:  Pavel Tesner; Jana Drabova; Miroslav Stolfa; Martin Kudr; Martin Kyncl; Veronika Moslerova; Drahuse Novotna; Radka Kremlikova Pourova; Eduard Kocarek; Tereza Rasplickova; Zdenek Sedlacek; Marketa Vlckova
Journal:  Mol Cytogenet       Date:  2018-05-09       Impact factor: 2.009

  1 in total

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