Cat eye syndrome owing to tetrasomy 22pter leads to q11.
Open Access
- 1 February 1984
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (1) , 60-63
- https://doi.org/10.1136/jmg.21.1.60
Abstract
A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.Keywords
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