Congenital deficiency of alpha-fetoprotein and associated chromosomal abnormality in the placenta.
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.
Sharony
Reuven
R
The Genetics Institute, Sapir Medical Center-Meir Hospital, Kfar Saba, Tel Aviv University, Israel. sharony@clalit.org.il
Amiel
Aliza
A
Bouaron
Nitsan
N
Kidron
Debora
D
Itzhaky
Dganit
D
Fejgin
Moshe
M
D000328:Adult; D000653:Amniotic Fluid; D002869:Chromosome Aberrations / Q000196:embryology*; D000013:Congenital Abnormalities / Q000196:embryology / Q000378:metabolism; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010920:Placenta / Q000196:embryology* / Q000378:metabolism / Q000473:pathology; D010922:Placenta Diseases / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000509:alpha-Fetoproteins / Q000032:analysis / Q000172:deficiency*
D000509:alpha-Fetoproteins