The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the p13→q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.
- Chromosome 14
- Partial trisomy 14
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health