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CHROMOSOMAL DISORDERS &
MODES OF INHERITANCE
Autosomal Dominant Disorders
• achondroplasia
• antithrombin III deficiency
• Ehlers-Danlos syndrome
• Gilbert's disease
• hereditary haemorrhagic
telangiectasia
• hereditary elliptosis, hereditary
spherocytosis
• Huntington's disease
• idiopathic hypoparathyroidism
• intestinal polyposis
• marble bone disease
• Marfan's syndrome
• neurofibromatosis
• polycystic kidney disease (adult)
• protein C deficiency
• osteogenesis imperfecta
• Treacher Collins syndrome
• tuberous sclerosis
• Von Willebrand's disease
THANK YOU
CHROMOSAL DISORDERS xeeshan.pptx

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CHROMOSAL DISORDERS xeeshan.pptx

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  • 45. Autosomal Dominant Disorders • achondroplasia • antithrombin III deficiency • Ehlers-Danlos syndrome • Gilbert's disease • hereditary haemorrhagic telangiectasia • hereditary elliptosis, hereditary spherocytosis • Huntington's disease • idiopathic hypoparathyroidism • intestinal polyposis • marble bone disease • Marfan's syndrome • neurofibromatosis • polycystic kidney disease (adult) • protein C deficiency • osteogenesis imperfecta • Treacher Collins syndrome • tuberous sclerosis • Von Willebrand's disease
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Editor's Notes

  1. Dominant is always expressed when present. Recessive is only expressed when no dominant genes are present. The main difference between autosomal and X-linked is that autosomal inheritance is the inheritance of traits that are determined by the genes in the autosome whereas X-linked inheritance is the inheritance of traits determined by the genes in one of the sex chromosomes
  2. our genes constitute only about 2% of our DNA. Most of the DNA in which we may be identical is noncoding DNA, not our genes. But even aside from that point, if all of us have 99.99% identical DNA, the other 0.01% still leaves more than 3 million base pairs in which we differ, which leaves a lot of room for human variation.
  3. Dominant is always expressed when present. Recessive is only expressed when no dominant genes are present.