The neonatal recognition of partial 11q trisomy (previously ‘Trisomy 22′)

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Abstract
The recognition of chromosomal abnormalities in the neonatal period is important. Paediatricians should be aware that the partial ''Trisomy 22'' (now partial 11q trisomy) syndrome has a recognizable phenotypic expression and is relatively common. The distinctive facies with a long philtrum, micrognathia, beaked nose and cleft palate, associated with hypotonia and other congenital abnormalities, should make early postnatal diagnosis possible so that parental counselling can be given without delay.