Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin |
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Authors: | Amir Weiss Stavit Shalev Ehud Weiner Yona Shneor Dr Eliezer Shalev |
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Affiliation: | 1. Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel;2. Genetic Unit, Ha'Emek Medical Center, Afula, Israel |
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Abstract: | Prenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed. Copyright © 2003 John Wiley & Sons, Ltd. |
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Keywords: | 5p deletion syndrome cri du chat human chorionic gonadotrophin maternal serum screening |
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