Complex chromosomal rearrangement leading to partial trisomy 22.
We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D005145:Face; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D013577:Syndrome; D014314:Trisomy