title: [The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome].
abstract: The study of gene/dosage effect may be essential in tracing the pathogenetic steps which lead from an unbalanced chromosome anomaly to a pathological phenotype. We present a newborn with a clinical and pathological picture compatible with a diagnosis of Edwards' syndrome. Chromosome analysis on lymphocytes and fibroblasts confirmed the diagnosis showing the presence of trisomy 18. On chromosome 18 the enzyme peptidase A is mapped, and we demonstrated the gene/dosage effect for Pep A in the erythrocytes of our patient.
authors.affiliation: Istituto di Puericulture e Neonatologia, Facoltà di Medicina e Chirurgia, Università di Sassari, Italia.
authors.forename: B
authors.initials: B
authors.lastname: Spano
authors.forename: A
authors.initials: A
authors.lastname: Balata
authors.forename: M G
authors.initials: MG
authors.lastname: Sanna
authors.forename: G
authors.initials: G
authors.lastname: Fogu
authors.forename: A G
authors.initials: AG
authors.lastname: Angius
authors.forename: R
authors.initials: R
authors.lastname: Sanna
authors.forename: A M
authors.initials: AM
authors.lastname: Congiu
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D002887:Chromosomes, Human, Pair 18; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy
chemical_list: C022325:aspartic proteinase A; D016282:Aspartic Acid Endopeptidases
vernacular_title: Effetto gene-dose per l'enzima peptidasi A su eritrociti di un paziente con sindrome di Edwards.