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Autosomal genetic disorders can arise due to a number of causes, some of the most common being nondisjunction in parental germ cells or Mendelian inheritance of deleterious alleles from parents. Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion. [7]
Phenylketonuria is inherited in an autosomal recessive fashion. PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an individual to experience symptoms of the disease.
Chromosome 16. Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2]
Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease.The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure.
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. [9] [10] The disease is inherited in an autosomal recessive manner. [2]This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Genetics is the study of genes and tries to explain what they are and how they work. Genes are how living organisms inherit features or traits from their ancestors; for example, children usually look like their parents because they have inherited their parents' genes.
Methylmalonic acidemia has an autosomal recessive pattern of inheritance. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder. The parents of a child with an ...
Ochoa Syndrome has an autosomal recessive pattern of inheritance. Urofacial syndrome , or Ochoa syndrome , is an autosomal recessive [ 1 ] congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: when attempting to smile, the patient seems to be crying or grimacing.