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List of Human Genetic Disorders

Human Genetic Disorder
The genetic disorder arise in humans in the following ways:
  1. By anomalies in chromosomes
  2. By gene mutations in chromosomes
  3. By Incompatibility of genes
 1. i. Abnormalies of Autosomes
    ii. Anomalies in sex chromosomes
  • Turner's syndrome
  • Klinefelter's syndrome
  • Super males
  • Super females
2. i. Gene mutations in autosomes

 a) Dominantly inherited traits
  • Achondroplasia
  • Marfan's syndrome
  • Huntington's chorea
Autosomal Dominant Inheritance
  b) Recessive inherited traits
  • Alkaptonuria
  • Phenylketonuria
  • Albinism
  • Tay-Sach's disease
  • Gaucher's disease
  • Sickle Cell Anemia
  • Thalassemia
  • Cystic Fibrosis (CF)

Autosomal Recessive Inheritance
  ii. Gene mutations in sex chromosomes (Sex-linked Disorders)
  • Hemophilia
  • Night blindness
  • Colour blindness
  • Duchenne's Muscular Dystrophy (DMD)
3. Disorders due to Incompatibility of genes
  • ABO blood  group incompatibility
  • Rh factor incompatibility
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