Partial Trisomy of the 13th Chromosome in a Child with Multiple Defects
Authors:
H. Fischlová 1; J. Sýkora 2; F. Stožický 2; D. Valečková 2; M. Jurčuková 3
Authors‘ workplace:
Oddělení lékařské genetiky Fakultní nemocnice, Plzeň
1
Published in:
Čes-slov Pediat 2000; (8): 511-514.
Category:
Overview
Duplication of the chromosomal material is usually the cause of inborn defects and of considerable deviationsin the child’s phenotype.The authors describe the case of a child with severe degenerative stigmatization and marked ocular affection.Prenatal amniocentesis was performed on account of hypotrophy of the foetus and oligohydramnion. Derivationof the 10th chromosome was found and cytogenetic examination of the mother revealed a balanced translocationof 46,XX,t(10;13)(q26;q14). In the child karyotype 46,XY,der(10)t(10;13)(q26;q14)mat was found. A partialtrisomy of the 13th chromosome is involved.
Key words:
chromosome 13, partial trisomy
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2000 Issue 8
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