Authors: P. Čapková 1; A. Šantavá 1; M. Holzerová 2; M. Jarošová 2 Authors‘ workplace: Ústav lékařské genetiky a fetální medicíny FN a LF UP, Olomouc přednosta prof. MUDr. J. Šantavý, CSc. 1; Hematoonkologická klinika FN a LF UP, Olomouc přednosta prof. MUDr. K. Indrák, DrSc. 2 Published in: Čes-slov Pediat 2007; 62 (7-8): 440-443. Category: Case Report
Rethore syndrome (trisomy 9p) is an inherited poly-malformation syndrome caused by chromosomal aberration. The authors describe the case of a boy, where common cytogenetic methods revealed the presence of chromosomal aberration including chromosomes 9 and 11. The method of fluorescence in situ hybdridization (FISH) and comparative genomic hybridization (CGH) revealed the presence of trisomy 9p in the form of isochromosome 9p. At the same time, translocation of the long arm of 9q to chromosome 11 was confirmed. Karyotype of the proband was therefore: 46,XY, i(9)(p10),der(11),t(9;11)(q13;q24). Both parents displayed a normal karyotype and the chromosomal aberration in the proband therefore developed “de novo”. The risk of disease to be repeated in the family is negligible.
Key words: Rethore syndrome, isochromosome, trisomy 9p, FISH, CGH
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