Literature DB >> 1142383

A mentally retarded child with a translocation involving chromosomes 12 and 19.

T W Histinx, F J Gabreëls, F J Rutten, I I Korten, J M Scheres, E M Joosten.   

Abstract

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.

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Year:  1975        PMID： 1142383      PMCID： PMC1013267          DOI： 10.1136/jmg.12.2.207

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

2.  Identification of two Robertsonian translocations with a Giemsa banding technique.

Authors:  J M Scheres
Journal:  Humangenetik       Date:  1972

3.  A 48, XXXX female.

Authors:  S D Peña; M Ray; G Douglas; E Loadman; J L Hamerton
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

4.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316
  4 in total
  4 in total

Review 1.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132

2.  Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Authors:  S Ayme; M G Mattei; J F Mattei; F Giraud
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

3.  Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.

Authors:  G Zamboni; F Bernardi; C Danesino; U M del Majno; G Beghini; B Dalla Bernardina
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

4.  Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

Authors:  M Masuno; K Imaizumi; G Nishimura; M Nakamura; I Saito; K Akagi; Y Kuroki
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  4 in total

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