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[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome].

Authors
  • Spano, B
  • Balata, A
  • Sanna, M G
  • Fogu, G
  • Angius, A G
  • Sanna, R
  • Congiu, A M
Type
Published Article
Journal
La Pediatria medica e chirurgica : Medical and surgical pediatrics
Publication Date
Jan 01, 1990
Volume
12
Issue
4
Pages
393–394
Identifiers
PMID: 2075105
Source
Medline
License
Unknown

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 Edwards' syndrome. Chromosome analysis on lymphocytes and fibroblasts confirmed the diagnosis showing the presence of trisomy 18. On chromosome 18 the enzyme peptidase A is mapped, and we demonstrated the gene/dosage effect for Pep A in the erythrocytes of our patient.

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