Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.
McGaughran
Julie
J
Genetic Health Queensland, Royal Brisbane and Women's Hospital Royal Children's Hospital, Brisbane, Queensland, Australia.
Hadwen
Thomas
T
Clark
Ron
R
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003241:Consanguinity; D004487:Edema / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D010996:Pleural Effusion / Q000235:genetics*; D012303:Ring Chromosomes