[Gene-dosage effect of esterase D enzyme on erythrocytes in a patient with Patau's syndrome].
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.
Spano
B
B
Istituto di Puericultura e Neonatologia, Università di Sassari, Italia.
Fogu
G
G
Sanna
R
R
Angius
A G
AG
Campus
P M
PM
Cattina
A
A
Chiarolini
A
A
Olzai
M G
MG
Balata
A
A
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
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human
Effetto gene-dose per l'enzima esterasi D su eritrociti di un paziente con sindrome di Patau.