Literature DB >> 19842195

A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.

Tomoharu Tokutomi1, Takahito Wada, Eiji Nakagawa, Shinji Saitoh, Masayuki Sasaki.   

Abstract

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Year:  2009        PMID： 19842195     DOI： 10.1002/ajmg.a.33049

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


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  5 in total

1.  Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.

Authors:  Akif Ayaz; Alper Gezdirici; Elif Yilmaz Gulec; Ozge Ozalp; Abdullah Huseyin Koseoglu; Zeynep Dogru; Sinem Yalcintepe
Journal:  Medeni Med J       Date:  2022-06-23

2.  Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.

Authors:  Ljubica Odak; Ingeborg Barisić; Leona Morozin Pohovski; Mariluce Riegel; Albert Schinzel
Journal:  Croat Med J       Date:  2011-06       Impact factor: 1.351

3.  Genome-wide signatures of 'rearrangement hotspots' within segmental duplications in humans.

Authors:  Mohammed Uddin; Mitch Sturge; Lynette Peddle; Darren D O'Rielly; Proton Rahman
Journal:  PLoS One       Date:  2011-12-14       Impact factor: 3.240

4.  Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report.

Authors:  Hui-Hui Xie; Tong Liu; Jing-Bo Zhang; Jing-Fang Zhai; Ying Liu
Journal:  Medicine (Baltimore)       Date:  2021-02-19       Impact factor: 1.817

5.  A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features.

Authors:  A Türkyılmaz; O Yaralı
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  5 in total

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