title: Pregnancy-associated plasma protein A: a possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome.
abstract: The concentration of human platelet lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP-1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP-A could not be detected in any of the samples examined. Immunohistochemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed.
mesh_terms: D000328:Adult; D003635:De Lange Syndrome / Q000145:classification / Q000175:diagnosis* / Q000378:metabolism; D004964:Estriol / Q000097:blood; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007231:Infant, Newborn; D010920:Placenta / Q000378:metabolism; D010928:Placental Lactogen / Q000097:blood; D011247:Pregnancy; D011257:Pregnancy Proteins / Q000097:blood*; D011266:Pregnancy-Associated Plasma Protein-A / Q000097:blood* / Q000378:metabolism; D011268:Pregnancy-Specific beta 1-Glycoproteins / Q000097:blood; D011296:Prenatal Diagnosis
chemical_list: D011257:Pregnancy Proteins; D011268:Pregnancy-Specific beta 1-Glycoproteins; D010928:Placental Lactogen; D011266:Pregnancy-Associated Plasma Protein-A; D004964:Estriol