Literature DB >> 19248177

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Meena Balasubramanian1, John C K Barber, Morag N Collinson, Shuwen Huang, Viv K Maloney, Dave Bunyan, Nicki Foulds.   

Abstract

Mesh：

Year:  2009        PMID： 19248177     DOI： 10.1002/ajmg.a.32463

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


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  8 in total

1.  Micro-duplications of 1q32.1 associated with neurodevelopmental delay.

Authors:  H E Olson; Y Shen; A Poduri; M P Gorman; K A Dies; M Robbins; R Hundley; B Wu; M Sahin
Journal:  Eur J Med Genet       Date:  2012-01-02       Impact factor: 2.708

2.  Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1.

Authors:  Takaya Sasaki; Masahiro Okabe; Takeshi Tosaki; Yu Honda; Masahiro Ishikawa; Nobuo Tsuboi; Takashi Yokoo
Journal:  CEN Case Rep       Date:  2018-05-16

3.  Partial 1q Duplications and Associated Phenotype.

Authors:  Marcos L M Morris; José E Baroneza; Patricia Teixeira; Cristina T N Medina; Mara S Cordoba; Beatriz R Versiani; Liege L Roese; Erika L Freitas; Ana C S Fonseca; Maria C G Dos Santos; Aline Pic-Taylor; Carla Rosenberg; Silviene F Oliveira; Iris Ferrari; Juliana F Mazzeu
Journal:  Mol Syndromol       Date:  2016-02-04

4.  Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Authors:  Vera Ayres Meloni; Sylvia Satomi Takeno; Ana Luiza Pilla; Claudia Berlim de Mello; Maria Isabel Melaragno; Leslie Domenici Kulikowski
Journal:  Mol Cytogenet       Date:  2014-08-22       Impact factor: 2.009

5.  Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Authors:  Beata Aleksiūnienė; Rugilė Matulevičiūtė; Aušra Matulevičienė; Birutė Burnytė; Natalija Krasovskaja; Laima Ambrozaitytė; Violeta Mikštienė; Vaidas Dirsė; Algirdas Utkus; Vaidutis Kučinskas
Journal:  Medicine (Baltimore)       Date:  2017-04       Impact factor: 1.889

6.  A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

Authors:  Tomohiro Kohmoto; Nana Okamoto; Takuya Naruto; Chie Murata; Yuya Ouchi; Naoko Fujita; Hidehito Inagaki; Shigeko Satomura; Nobuhiko Okamoto; Masako Saito; Kiyoshi Masuda; Hiroki Kurahashi; Issei Imoto
Journal:  Mol Cytogenet       Date:  2017-04-28       Impact factor: 2.009

7.  Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2.

Authors:  Surasak Puvabanditsin; Vidya Puthenpura; Seyni Gueye-Ndiaye; Michele Takyi; Adaora Madubuko; Lauren Walzer; Rajeev Mehta
Journal:  Ann Pediatr Cardiol       Date:  2018 May-Aug

8.  A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism.

Authors:  Young-Jin Choi; Eunsim Shin; Tae Sik Jo; Jin-Hwa Moon; Se-Min Lee; Joo-Hwa Kim; Jae-Won Oh; Chang-Ryul Kim; In Joon Seol
Journal:  Korean J Pediatr       Date:  2016-02-29
  8 in total

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