Literature DB >> 12910488

Congenital deficiency of alpha-fetoprotein and associated chromosomal abnormality in the placenta.

Reuven Sharony1, Aliza Amiel, Nitsan Bouaron, Debora Kidron, Dganit Itzhaky, Moshe Fejgin.   

Abstract

In this study we describe two patients with congenital absence of alpha-fetoprotein (AFP). The pathological examination results, including an immunohistochemical stain, which define qualitatively the levels of AFP detected by the biochemical studies and the comparative genomic hybridization (CGH) are enclosed. A description of the suggested functions of AFP and the means of its production are set forth. An explanation is suggested for the lack of symptoms in a newborn with undetectable levels of AFP and the mechanism by which this condition might occur. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID: 12910488     DOI: 10.1002/ajmg.a.20397

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Authors:  François M Petit; Marylise Hébert; Olivier Picone; Sophie Brisset; Marie-Laure Maurin; Frédéric Parisot; Liliane Capel; Clarisse Benattar; Marie-Victoire Sénat; Gérard Tachdjian; Philippe Labrune
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

  1 in total

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