Trisomy 12 Mosaicism Detected by Genomic Microarray in a Newborn Child

Trisomy 12 mosaicism is a rare genetic condition. Most of the trisomy 12 mosaicism cases were reported prenatally, with less than ten cases diagnosed postnatally. The clinical features associated with mosaic trisomy 12 are extremely variable ranging from apparently normal individuals to patients with various dysmorphic features including short stature, scoliosis, cardiac defects, facial dysmorphism, pigmentary dysplasia, and intellectual disability. The phenotypic variation may be associated with the proportion and distribution of the trisomic cells.