Literature DB >> 2195981

Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.

J P Fryns1, A Kleczkowska, P Decock, H Van den Berghe.   

Abstract

In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1----q13 (karyotype: 46, XX, dir dup(16) (pter----cen----q11.1----q13::q11.1----q13::q13----qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found.

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Year:  1990        PMID： 2195981

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  4 in total

1.  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

2.  A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Authors:  Joshua Manor; Daniela Dinu; Mahshid S Azamian; Weimin Bi; Sandra Darilek; Seema R Lalani
Journal:  Am J Med Genet A       Date:  2021-06-01       Impact factor: 2.578

3.  A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.

Authors:  Laura Rodríguez; Tomas Liehr; María Luisa Martínez-Fernández; Ana Lara; Antonio Torres; María Luisa Martínez-Frías
Journal:  Mol Cytogenet       Date:  2008-04-02       Impact factor: 2.009

4.  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
  4 in total

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