DE NOVA TRISOMY-22 DUE TO AN EXTRA 22Q-CHROMOSOME

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