Literature DB >> 677166

Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.

N R Dennis, R L Neu, R M Bannerman.   

Abstract

An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.

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Year:  1978        PMID： 677166     DOI： 10.1002/ajmg.1320010303

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


  6 in total

1.  Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

Authors:  S Richter; B Lockwood; D Lockwood; J Allanson
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

2.  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

3.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  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

6.  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
  6 in total

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