Literature DB >> 1081364

De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl.

E C Jenkins, F M Curcuru-Giordano, S G Krishna, J Cantarella.   

Abstract

A 12 year-old mentally retarded girl with multiple congenital malformations presented with an apparently new chromosome abnormality involving a de novo balanced reciprocal translocation between part of the long arms of chromosomes 4 and 13. This was observed in 291 metaphase spreads derived from short-term leucocyte and skin fibroblast cultures.

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Mesh:

Year:  1975        PMID: 1081364

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


  6 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.  A case of 46,XY,t(1;13) (q24;q32) with mental retardation.

Authors:  L Wilbur; F M Curcuru-Giordano; S G Krishna; N B Kardon; E C Jenkins
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

3.  Nondisjunction of a translocation-chromosome t(4;13).

Authors:  M Westmeier; P Kaiser; W Hellwig-Beato; E D Steuber; G Körver; I Ribhegge
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Complex balanced translocation of chromosomes 2, 3, and 13.

Authors:  R S Muneer; D L Donaldson; O M Rennert
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  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

Review 6.  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

  6 in total

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