Premium
The neonatal recognition of partial 11q trisomy (previously ‘Trisomy 22′)
Author(s) -
PATTEMORE P. K.,
SHAW R. L,
GUNN T. R.
Publication year - 1987
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1987.tb00245.x
Subject(s) - medicine , hypotonia , trisomy , partial trisomy , pediatrics , nose , anatomy , genetics , karyotype , chromosome , biology , gene
The recognition of chromosomal abnormalities in the neonatal period is important. Paediatricians should be aware that the partial Trisomy 22’(now partial 11 q trisomy) syndrome has a recognizable phenotypic expression and is relatively common. The distinctive fades with a long philtrum, micrognathia, beaked nose and deft palate, associated with hypotonia and other congenital abnormalities, should make early postnatal diagnosis possible so that parental counselling can be given without delay.