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Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation
S A Smith1, K E Martin, K L Dodd
1Department of Child Health, Queen's Medical Centre, Nottingham, UK.
Clinical Dysmorphology
|October 1, 1994
Abstract:
A 9-year-old boy with multiple abnormalities including severe bilateral microphthalmia, diaphragmatic hernia and Fallot's tetralogy is presented. He has also been shown to have an apparently balanced de novo reciprocal translocation, 46,XY,t(1;15)(q41;q21.2), which suggests that one of those breakpoints may be the locus for a gene which is important in morphogenesis.