First report of the presence of human T-cell lymphotropic virus I infection in Italian drug addicts.
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HIV Seropositivity↗
Biomedical subjects
A Chiarolini
Publications and source records attributed to A Chiarolini.
[Trisomy 18: phenotypic and biochemical variability].
We report a case of Edward's syndrome showing some symptoms infrequently described in trisomy 18. The authors suggest that the phenotypic expression of symptoms rarely observed in the syndrome may be better interpreted as non specific consequence of the chromosomal imbalance, rather than directly related to genes on chromosome 18. A gene dosage effect for the enzyme Peptidase A, whose gene is mapped on chromosome 18, was also observed.
Aspartic Acid Endopeptidases↗
[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.
Alleles↗