Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation.
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.
Smith
S A
SA
Department of Child Health, Queen's Medical Centre, Nottingham, UK.
Martin
K E
KE
Dodd
K L
KL
Young
I D
ID
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*; D014178:Translocation, Genetic