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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
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.
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 ).
This condition is inherited in an autosomal recessive manner Griscelli syndrome type 2 (also known as " partial albinism with immunodeficiency ") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia , and thrombocytopenia .
MKS is inherited in an autosomal recessive dominance pattern. [5] Both parents of the affected must be heterozygous carriers of the pathogenic variant. Heterozygous carriers for MKS show no symptoms of the disorder, nor can they develop 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 ...
Kufor–Rakeb syndrome is associated with mutations in the ATP13A2 gene. [8] The inheritance pattern for KRS is autosomal recessive. [9] If a male and female carrier, who each have one mutation in ATP13A2 have a child, there is a 25% chance the child has KRS, a 50% chance the child is a carrier for KRS, and a 25% chance the child does not have KRS.