Articles on Medical Diseases and Conditions

Cystic fibrosis. Cystic fibrosis (mucoviscidosis, or fibrocystic disease of the pancreas) is the most common eventually lethal autosomal recessive inherited disorder in Europeans (estimated gene frequency of 1 in 2,000 live births). Incidence in African Americans is 2% of that in Europeans; it is rare in Asians. About 90% of homozygotes have symptoms resulting predominately […]

Various diagnostic modalities are available. Some genetic disorders involve chromosomes. Many chromosomal abnormalities are autosomal (not involving the sex chromosome); others are sex-linked (inherited through the sex chromosomes). In some cases there may be total or partial deletion of a chromosome, presence of an extra chromosome attached to a chromosome pair (trisomy), or translocation, when […]