title: [Gene-dosage effect of esterase D enzyme on erythrocytes in a patient with Patau's 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 Patau Syndrome. A chromosome analysis confirmed the diagnosis showing the presence of trisomy 13. On chromosome 13 the enzyme Esterase D (ESD) is mapped, and we demonstrated the gene/dosage effect for ESD in the erythrocytes of our patient.
authors.affiliation: Istituto di Puericultura e Neonatologia, Università di Sassari, Italia.
authors.forename: B
authors.initials: B
authors.lastname: Spano
authors.forename: G
authors.initials: G
authors.lastname: Fogu
authors.forename: R
authors.initials: R
authors.lastname: Sanna
authors.forename: A G
authors.initials: AG
authors.lastname: Angius
authors.forename: P M
authors.initials: PM
authors.lastname: Campus
authors.forename: A
authors.initials: A
authors.lastname: Cattina
authors.forename: A
authors.initials: A
authors.lastname: Chiarolini
authors.forename: M G
authors.initials: MG
authors.lastname: Olzai
authors.forename: A
authors.initials: A
authors.lastname: Balata
mesh_terms: D000483:Alleles; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000096:biosynthesis*; D002882:Chromosomes, Human, Pair 13 / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy
chemical_list: D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human
vernacular_title: Effetto gene-dose per l'enzima esterasi D su eritrociti di un paziente con sindrome di Patau.