[Double trisomy and transmitted pericentric inversion (48,XXY, +21,inv(22)). Interchromosomal effect].
A patient is reported, carrier of a double aneuploidy (trisomy 21 and XXY) associated with a pericentric inversion 22 inherited from the mother. The role of this structural rearrangement at the origin of the double aneuploidy is discussed.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012730:Sex Chromosomes; D014314:Trisomy
Double trisomie et inversion péricentrique transmise [48,XXY, +21,inv(22)]. Effet interchromosomique.