[Partial trisomy of chromosome 3 resulting from paternal translocation].
The authors report a case of a 3 year-old patient presenting with partial trisomy of the short arm of chromosome 3. According to 21 previously published cases, the main features characterizing this chromosomal abnormality which is mainly observed in males are: cranio-facial dysmorphy, cardiac and genito-urinary malformations, psychomotor retardation. Cytogenetic studies always show an inherited balanced translocation allowing a possible prenatal diagnosis.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle du chromosome 3 résultant d'une translocation paternelle.