A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?


We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication are: mild to moderate mental retardation, microcephaly… (More)


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