Literature DB >> 8882791

De novo interstitial tandem duplication of chromosome 4(q21-q28).

E G Navarro1, M C Romero, I L Expósito, C M Velasco, J G Llamas, F J Ramón, R D Jimenez.   

Abstract

We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q.

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Mesh：

Year:  1996        PMID： 8882791     DOI： 10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Authors:  Lucie Tosca; Sophie Brisset; François M Petit; Laure Lecerf; Ghislaine Rousseau; Cécile Bas; Mireille Laroudie; Marie-Laure Maurin; Sylvie Tapia; Olivier Picone; Sophie Prevot; Michel Goossens; Philippe Labrune; Gérard Tachdjian
Journal:  Eur J Hum Genet       Date:  2010-04-28       Impact factor: 4.246

2.  Case Report: Phenotype-Gene Correlation in a Case of Novel Tandem 4q Microduplication With Short Stature, Speech Delay and Microcephaly.

Authors:  Umm-Kulthum Ismail Umlai; Basma Haris; Khalid Hussain; Puthen Veettil Jithesh
Journal:  Front Endocrinol (Lausanne)       Date:  2022-02-03       Impact factor: 5.555

Review 3.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  3 in total

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