Mosaicism trisomy 10 in a 14-month-old child with additional neurological abnormalities: case report and literature review

BACKGROUND: Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of partial chromosomal abnormalities in some leukemic cells and tumor specimens. Only 6 cases of mosaicism trisomy 10 have been reported so far. None of these reports pertain to living children with neurological abnormalities. CASE PRESENTATION: We report the case of a 14-month-old girl who was brought for treatment of unusual facies, growth retardation, and patent ductus arteriosus. Karyotype analysis revealed a 47, XX, + 10/46, XX pattern. MRI showed characteristics of Dandy–Walker syndrome and ventricular enlargement in the brain. CONCLUSIONS: This case is distinguished by its extreme rarity and its potential for use as a reference case of this condition in clinical settings.