[Trisomy 4p. Three new observations (author's transl)].
Three new observations of trisomy 4p are reported. Two are due to a maternal translocation t(4;15). The third is due to a "mirror" duplication, it is the first case of trisomy 4p without balanced parental rearrangement. The very characteristic phenotype is compared to that of 13 other patients already reported in the literature.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
La trisomie 4p. A propos de 3 observations