Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

摘要

We recently found trisomy 2 mosaicism in a 7-year-old boy with multiple malformations and intellectual disabilities. The propositus was born to healthy non-consanguineous parents at 40 weeks of gestation following caesarean due to severe oligohy-dramnios. Birth weight was 2,860 g (25th centile), length 48 cm (25th-50th centile), OFC 32.5 cm (<3rd centile) and multiple malformations were seen. At the time of our observation the patient had bilateral deafness, psychomotor retardation, facial dismorphims, microcephaly, micro-anophthalmia, cleft palate, bilateral cryptorchi-dism, small penis, face and body asymmetry, bilateral clubfoot, lack of sacrum and part of coccyx, attenuated lower spinal cord (caudal dysgenesis), and Hirschsprung (HSCR) disease (Fig. 1).