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A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
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 .
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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 ...
Autosomal recessive inheritance, a 25% chance, and (purple) a 50% carrier chance. Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented.
Hyperlysinemia has an autosomal recessive pattern of inheritance. Hyperlysinemia is inherited in an autosomal recessive manner. [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.
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 ...
CARASIL is an autosomal recessive disease, meaning that both parents must be a carrier for the allele in order for the disease to be passed on to the child. [11] As with other autosomal recessive diseases, the likelihood of receiving a recessive allele from both parents increases if the parents are closely related to each other (consanguineous).