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Updated: Aug 21, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
The neonatal recognition of partial 11q trisomy (previously 'trisomy 22')
P K Pattemore1, R L Shaw, T R Gunn
1Department of Paediatrics, St Helens Hospital, Auckland, New Zealand.
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.
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