Literature DB >> 19938092

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Doriana Misceo1, Karen Helene Orstavik, Helle Lybaek, Inger Sandvig, Eli Ormerod, Gunnar Houge, Eirik Frengen.   

Abstract

Mesh:

Year:  2009        PMID: 19938092     DOI: 10.1002/ajmg.a.33106

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


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  2 in total

1.  Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Authors:  Malgorzata I Srebniak; Marjan Boter; Carla Ma Verboven-Peerden; Gerda Ag Looye-Bruinsma; Gretel Oudesluijs; Robert-Jan H Galjaard; Diane Van Opstal
Journal:  Mol Cytogenet       Date:  2011-12-02       Impact factor: 2.009

Review 2.  Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.

Authors:  Jianjiang Zhu; Hong Qi; Sha Cao; Lirong Cai; Xiaohui Wen; Guodong Tang; Qian Wan; Chen Chen; Juan Wang; Wen Zeng; Yao Luo
Journal:  Mol Genet Genomic Med       Date:  2019-07-17       Impact factor: 2.183

  2 in total

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