Literature DB >> 6971604

[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].

C Turleau, J de Grouchy, A Cornu, M Turquet, G Millet.   

Abstract

Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.

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Mesh:

Year:  1980        PMID: 6971604

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


  5 in total

1.  Trisomy 14 mosaicism in a 2 year old girl.

Authors:  M B Petersen; L O Vejerslev; B Beck
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

2.  Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

Authors:  M M Cohen; J Charrow; N E Balkin; C J Harris
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

Review 3.  Current status of human chromosome 14.

Authors:  D Kamnasaran; D W Cox
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

4.  Trisomy 22 in a newborn with multiple malformations.

Authors:  I Voiculescu; E Back; A M Duncan; H Schwaibold; W Schempp
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

5.  A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

Authors:  B Dallapiccola; G Ferranti; A Giannotti; G Novelli; L Pasquini; B Porfirio
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318

  5 in total

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