Two cases of trisomy 16 mosaicism ascertained postnatally.

摘要: Postnatally ascertained trisomy 16 mosaicism is a rare diagnosis, with only three reported cases to date no defined clinical phenotype. Trisomy diagnosed prenatally common and associated variable pregnancy outcomes ranging from stillbirth multiple congenital abnormalities an apparently normal newborn, making the genetic counseling very challenging. It not clear whether uniparental disomy (UPD) contributes phenotype, although it has been suggested that maternal UPD affects rate of intra-uterine growth retardation (IUGR) anomalies. We report on two further confined fibroblasts postnatally. Patient 1 presented at birth severe hypospadias, unilateral postaxial polydactyly, different hair color midline demarcation. His development were 11 months age. 2 was born IUGR, significant craniofacial body asymmetry, asymmetric skin hyperpigmentation, hearing loss, scoliosis, VSD, unexplained dilated cardiomyopathy, feeding difficulties, failure thrive, recurrent respiratory tract infections. She died 7 age failure. These postnatally highlight variability features outcome in this diagnosis. While typical chromosomal mosaicism, had mild transient essentially outcome, suggesting may be under-diagnosed.