[Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].
The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion.
D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005198:Fanconi Syndrome / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree
Etude cytogénétique d'un cas de syndrome de Fanconi avec inversion pericentrique familiale