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Autosomal recessive pattern, showing how two unaffected carriers can have a child with the disease. Some genetic disorders are caused by having two "bad" copies of a recessive allele. When the gene is located on an autosome (as opposed to a sex chromosome), it is possible for both men and women to be carriers .
A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
[136] [137] [138] Inheritance of all forms of 21-hydroxylase CAH is autosomal recessive, [4] except some mild disease-causing variants such as p.V281L that seem to exert dominant negative effects on enzymatic activity. [2] Persons affected by any forms of the disease have two abnormal alleles, and both parents are usually heterozygotes (or ...
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
3C syndrome is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, [4] the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia .
In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. [ 1 ] [ 2 ] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
This disease is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must have one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are carriers, but are usually not affected by the disorder. [citation ...
Chr 17. Mulibrey nanism is caused by mutations of the TRIM37 gene, [2] located at human chromosome 17q22-23. [9] The disorder is inherited in an autosomal recessive manner. [7] This means the defective gene responsible for the disorder is located on an autosome (chromosome 17 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born ...