The neonatal recognition of partial 11q trisomy (previously 'trisomy 22').
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.
Pattemore
P K
PK
Department of Paediatrics, St Helens Hospital, Auckland, New Zealand.
Shaw
R L
RL
Gunn
T R
TR
D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005149:Facial Expression; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014314:Trisomy