But in recessive inheritance, both matching genes must be abnormal to cause disease. In most dominant X-linked disorders, males have worse symptoms than females. Pellagra -like syndrome diarrhea, dementia, dermatitislight-sensitive skin rash, temporary cerebellar ataxia.
Leber hereditary optic neuropathy LHON. Diseases caused by mutations in a single gene are usually inherited in a simple pattern, depending on the location of the gene and whether one or two normal copies of the gene are needed.
Will see epicanthal folds, simian creasebrushfield spots in eyes. Inheritance of a specific disease, condition, or trait depends on the type of chromosome that is affected. Dry skin, melanomas, pre-malignant lesions, other cancers.
One Barr body seen on buccal smear. T-Cell deficiency from no thymus. Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas.
Goldman-Cecil Medicine. Hepatosplenomegaly, erosion of femoral head, mild anemia. Huntington disease , Marfan syndrome.