1. Biochemical and Molecular Genetics of Human Disease I Monogenic disorders Garrod’s Inborn Errors of Metabolism G6PD deficiency Alpha-1 antitrypsin deficiency Familial…

Slide 1X LINKED INHERITANCE Slide 2 X Linked (XL) disorders are encoded on the X chromosome. Males inherit their X chromosome from their mother, and Y chromosome from their…

External ear disorders External ear disorders SRIDEVI.R Introduction A deformity, dysmorphism, or dysmorphic feature is a major difference in the shape of a body part or…

Syndrome of the month Journal of Medical Genetics 1988. 25. 47-51 Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) CHRISTINE OLEY AND MICHAEL BARAITSER…

Slide 1 Genetics U.K. College of Nursing Slide 2 Genes and Chromosomes zEach cell contains 23 pairs of matched chromosomes for a total of 46 chromosomes per cell. zOne chromosome…

Slide 1 Genetic Testing Lecture 8 Slide 2 Genetic diseases often depend on the genotype of an individual at a single locus. Traits inherited in this manner are said to follow…

Slide 1 Single gene disorder pedigree proband: affected individual that initially comes to light kindred: relatives outside of the immediate nuclear family siblings: brothers…

Charcot-Marie-Tooth Prevalence:1/2500 type1:begins in first or second decade manifestations: a ;slowly progressive weakness b ; muscular wasting c ; sensory impairment (legs)…

Human Genetics Understanding Genetics with Family Trees How do we use Mendelâs Observations about Dominant and Recessive Traits, Segregation and Independent Assortment to…

Lesson 2 Monogenic disorders Mendelian inheritance Mendelian pedigree patterns mendelian genetic character depends on the genotype at one single locus expression of any human…