Cystic fibrosis and Down's syndrome: not always a poor prognosis.
A child developed a bronchiolitis-like illness and was found to have mosaic Down's syndrome (diagnosed on karyotype) and also cystic fibrosis, diagnosed on the basis of a high sweat osmolality (247 mosmoles/kg sweat; normal, 62-137) and a homozygous delta F508 genotype. Despite two potentially life-threatening conditions, the child is doing well at the age of 7 years, despite pancreatic insufficiency.
Saglani
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Queen Elizabeth II Hospital, Howlands, Welwyn Garden City, Herts, UK. ssaglani@yahoo.com
Bush
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D001988:Bronchiolitis / Q000175:diagnosis / Q000209:etiology / Q000473:pathology*; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D009030:Mosaicism; D011379:Prognosis; D013542:Sweat / Q000737:chemistry