Literature DB >> 1610122

de novo inversion-duplication of 2q35-2qter without growth retardation.

S Dahoun-Hadorn1, B Bretton-Chappuis.   

Abstract

A 7-year-old mentally retarded child was found to be the carrier of a de novo inversion-duplication of 2q35-2qter. His phenotype corresponded to that which is classically described in cases of partial trisomy of the long arm of chromosome 2; however, he did not show the growth retardation which usually characterizes this and other aneuploidy syndromes.

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Mesh：

Year:  1992        PMID： 1610122

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


  5 in total

1.  Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors:  Maurizia Colangelo; Melissa Alfonsi; Chiara Palka; Eleonora Zio Zio; Silvana Di Renzo; Paolo Guanciali-Franchi; Giandomenico Palka
Journal:  J Genet       Date:  2018-03       Impact factor: 1.166

2.  Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.

Authors:  K A Rack; P C Harris; A B MacCarthy; R Boone; H Raynham; M McKinley; M Fitchett; C M Towe; P Rudd; J A Armour
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

3.  Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).

Authors:  D R Romain; N G Mackenzie; D Moss; L M Columbano-Green; R H Smythe; R G Parfitt; J W Dixon
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

4.  Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

Authors:  Ruiyu Ma; Ying Peng; Yanghui Zhang; Yan Xia; Guizhi Tang; Jiazhen Chang; Ruolan Guo; Baoheng Gui; Yanru Huang; Chen Chen; Desheng Liang; Lingqian Wu
Journal:  Mol Cytogenet       Date:  2015-02-06       Impact factor: 2.009

5.  Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Authors:  Juan Pablo Meza-Espinoza; Enrique Sáinz González; Christian J N León-León; Eliakym Arámbula-Meraz; José Alfredo Contreras-Gutiérrez; Noemí García-Magallanes; Jesús Madueña-Molina; Fred Luque-Ortega; Salvador Cervín-Serrano; Verónica Judith Picos-Cárdenas
Journal:  Mol Cytogenet       Date:  2020-05-19       Impact factor: 2.009
  5 in total

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