Abstract
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide. We report a recent case of a 7-year-old boy brought in by his mother seeking a diagnosis for the condition of her child. The father deceased 6 years earlier, and the obstetrical history of the mother revealed 3 first trimester recurrent abortions. Upon examination, the child was found to have short stature, dysmorphic features, atrial septal defect, cognitive disability and other neurological abnormalities. The mother's karyotype analysis showed a normal female karyotype 46,XX, while the child's analysis revealed mosaic trisomy of chromosome 22 syndrome 47,XY,+22/46,XY. This case marks the first documented case of this syndrome in Sudan.