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

被引:5
作者
Sharony, R [1 ]
Amiel, A
Bouaron, N
Kidron, D
Itzhaky, D
Fejgin, M
机构
[1] Tel Aviv Univ, Sackler Sch Med, Meir Hosp, Sapir Med Ctr,Genet Inst, IL-44281 Kefar Sava, Israel
[2] Tel Aviv Univ, Sackler Sch Med, Meir Hosp, Sapir Med Ctr,Pathol Inst, IL-44281 Kefar Sava, Israel
[3] Tel Aviv Univ, Sackler Sch Med, Meir Hosp, Sapir Med Ctr,Immunol Lab, IL-44281 Kefar Sava, Israel
来源
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 121A卷 / 02期
关键词
alpha-fetoprotein; congenital absence; triple test; hereditary persistence; CGH; enhancers;
D O I
10.1002/ajmg.a.20397
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. (C) 2003 Wiley-Liss, Inc.
引用
收藏
页码:113 / 117
页数:5
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