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Manifestations in the family were predominantly pulmonary; pancreatic exocrine insufficiency was not a conspicuous feature, especially in the older patients. (1990) described a RFLP DNA marker closely linked to the CF locus which showed an allelic correlation with severity of the disorder: the genotype 2/2 was associated with severe disease; the genotype 1/2 was overrepresented in patients with very mild clinical manifestations, including pancreatic insufficiency, absence of meconium ileus, and absence of Pseudomonas colonization. (1981) showed that sibs tend to show recurrence of meconium ileus as a feature of cystic fibrosis.The distal intestinal obstruction syndrome is a 'meconium ileus equivalent' that occurs in adolescents and adults with CF.Suddenly the old guy lifted the hem of her dress and she saw a stiff cock sticking out of his jeans.She screamed and tried to get up, but the second dude grabbed her hands, bent her over the table and forced her to suck, while the first one was savagely bonking her pussy.Another was her 52-year-old sister, the mother of the affected proposita.
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A number sign (#) is used with this entry because cystic fibrosis is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance regulator gene (CFTR; 602421) on chromosome 7q31. There was 1 instance of mother-daughter involvement, the mother being related to her husband.
Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400). One of the presumed homozygotes was a 62-year-old woman.