Autosomal inheritance is when a parent passes down a condition to a child via autosomes, a type of chromosome. In autosomal inheritance, a copy of a faulty gene from one parent can cause a condition ...

Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...

Based on the inheritance pattern, EDS can be classified as autosomal dominant, autosomal recessive, and autosomal dominant or recessive. In each of these types, a set of major and minor criteria is ...

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

The Genomic Oligoarray and SNP Array Evaluation Tool 3.0 matches candidate genes within regions of homozygosity with a patient’s phenotype, by mining OMIM for gene entries that contain a Clinical ...

Sickle cell anemia is an inherited condition that follows an autosomal recessive inheritance pattern. Even if you don’t have sickle cell anemia, you could be a carrier of the gene for it. Sickle cell ...