De novo trisomy 22 due to an extra 22Q-chromosome

Trisomy 22 is the most frequent trisomy, after trisomy 16, of the trisomies present in miscarriages. The children born with trisomy 22 have usually unbalanced translocations 11; 22 or mosaicisms. In a recent review Bacino et al. [1] were able to find 17 cases of children born with trisomy 22 including only 3 cases confirmed by molecular cytogenetics. We report a patient with an extra chromosome 22q- without mosaicism. This chromosomal anomaly was defined with FISH studies. The phenotype include microcephaly, microtia with pre auricular tags, hypertelorism, epicanthus, palatal cleft, short neck, winging scapulae, hypoplasia of the distal phalanges, pulmonary stenosis and mental retardation.