Article
[Gene-dosage effect of esterase D enzyme on erythrocytes in a patient with Patau's syndrome].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Spano B, Fogu G, Sanna R, Angius A G, Campus P M, Cattina A, Chiarolini A, Olzai M G, Balata A
Abstract excerpt
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...
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