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Congenital deficiency of alpha-fetoprotein and associated chromosomal abnormality in the placenta
Reuven Sharony1, Aliza Amiel, Nitsan Bouaron
1The Genetics Institute, Sapir Medical Center-Meir Hospital, Kfar Saba, Tel Aviv University, Israel. sharony@clalit.org.il
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.
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