[A small supernumerary metacentric chromosome: interprétation test (author's transl)].
The report relates to a new case of small supernumerary metacentric chromosome. The phenotypical variability of previously published cases suggests that this chromosomal anomaly may arise from multiple origins. Our study shows the difficulties of a cytogenetic interpretation and the limits of the semeiologic arguments. It is, however, possible to hypothesize an 18 partial trisomy.
D000166:Acridines; D001399:Azure Stains; D001973:Bromodeoxyuridine; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D002903:Chromosomes, Human, 19-20; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D008844:Micrognathism / Q000235:genetics; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy
D000166:Acridines; D001399:Azure Stains; D001973:Bromodeoxyuridine
Petit chromosome métacentrique surnuméraire: essai d'interpretation