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

Abstract

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, postnatal growth retardation, ocular malformations, heart defects, abnormalities of the extremities and typical facies with thin, bowed upper lip, upturned nasal tip, high palate, small chin and everted ears.