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...
Topics
- Alleles
- Carboxylesterase
- Carboxylic Ester Hydrolases
- Chromosomes, Human, Pair 13
- Erythrocytes
- Humans
- Infant
- Karyotyping
- Male
- Syndrome
- Trisomy