Literature DB >> 150927

[Secondary trisomy 1 q due to a reciprocal maternal translocation].

G Bourrouillou, P Colombies, P Blanc.   

Abstract

The authors report a case of partial trisomy 1 q due to a maternal balanced translocation : t(1 ; 4) (q 32 : p 16). The evocative malformations of trisomy 1 q and monosomy 4 p are discussed and compared to seven others from the literature. Then the interest of the chromosomical prenatal diagnosis and the significance of familial genetic studies are showed.

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Year:  1978        PMID： 150927

Source DB:  PubMed          Journal:  C R Seances Soc Biol Fil        ISSN： 0037-9026


  4 in total

1.  Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Authors:  H C Duba; M Erdel; J Löffler; L Bereuther; H Fischer; B Utermann; G Utermann
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

3.  Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.

Authors:  C R Jamieson; J P Fryns; J Jacobs; G Matthijs; M J Abramowicz
Journal:  Am J Hum Genet       Date:  2000-11-06       Impact factor: 11.025

4.  Is a gene for microcephaly located on chromosome 1?

Authors:  A Pérez-Castillo; M A Martín-Lucas; J A Abrisqueta
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  4 in total

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