Klinefelter’s Syndrome u 2N + 1 (2N + 2, 2N + 3) u Genotype u Genotype: XXY (XXXY, XXXXY) u Phenotype u Phenotype: male, but sexual development may be poor. Often taller than average, mental development fine (XXY), usually sterile. u More X = more mental problems
Also known as Trisomy 18 Almost every organ system is affected. 1:10,000 live births. Children with full Trisomy 18 generally do not live more than a few months. Characteristics: small jaw, low-set ears, and a strawberry-shaped head.
Chromosome “M” - All “M” Chromosomes come from mom
These genes help form proteins involved in respiration. Defects in these genes cause Mitochondrial diseases such as mitochodrial myopathy, diabetes, heart disease, Alzheimer’s disease. Cummulative mutations may role play in aging