Literature DB >> 2015695

Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.

D H Wurster-Hill1, J M Marin-Padilla, J B Moeschler, J P Park, M McDermet.   

Abstract

This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).

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Year:  1991        PMID： 2015695     DOI： 10.1111/j.1399-0004.1991.tb03001.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.

Authors:  Jun Shen; Christopher A Walsh
Journal:  Mol Cell Biol       Date:  2005-05       Impact factor: 4.272

2.  Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester.

Authors:  Meike Bangma; Simone Lunshof; Diane Van Opstal; Robert J Galjaard; Dimitri N M Papatsonis
Journal:  AJP Rep       Date:  2011-06-08
  2 in total

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