Abstract
BackgroundTrisomy 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 presentationWe 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.ConclusionsThis case is distinguished by its extreme rarity and its potential for use as a reference case of this condition in clinical settings.
Highlights
Trisomy 10 is very rarely diagnosed, especially in living persons
Case reports of the other 6 cases described live births with trisomy 10 mosaicism, with typical clinical features including feeding problems, growth retardation, failure to thrive, blepharophimosis, low-set ears, high-arched palate, retrognathia, long slender trunk, marked plantar/palmar furrows, cardiopathy, and early death. None of these case reports presented any evidence of manifestations in a live case or of complete trisomy 10 in all cells
We describe a case of mosaicism trisomy 10 that presented with neurological abnormalities
Summary
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. Of these 7 cases, only 1 prenatal case (reported in 2001) was adjudged to be a complete Trisomy 10; at 35 weeks + 4 days of gestation, the mother underwent preterm labor with resultant intrauterine fetal death; the fetus (birth weight 1020 g) was delivered vaginally [2]. Case reports of the other 6 cases described live births with trisomy 10 mosaicism, with typical clinical features including feeding problems, growth retardation, failure to thrive, blepharophimosis, low-set ears, high-arched palate, retrognathia, long slender trunk, marked plantar/palmar furrows, cardiopathy, and early death.
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