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:
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
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