Document Detail

Congenital deficiency of alpha-fetoprotein and associated chromosomal abnormality in the placenta.
MedLine Citation:
PMID:  12910488     Owner:  NLM     Status:  MEDLINE    
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.
Reuven Sharony; Aliza Amiel; Nitsan Bouaron; Debora Kidron; Dganit Itzhaky; Moshe Fejgin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-11     Completed Date:  2004-04-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  113-7     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
The Genetics Institute, Sapir Medical Center-Meir Hospital, Kfar Saba, Tel Aviv University, Israel.
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MeSH Terms
Amniotic Fluid
Chromosome Aberrations / embryology*
Congenital Abnormalities / embryology,  metabolism
In Situ Hybridization, Fluorescence
Placenta / embryology*,  metabolism,  pathology
Placenta Diseases / diagnosis*
Prenatal Diagnosis*
alpha-Fetoproteins / analysis,  deficiency*
Reg. No./Substance:

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