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 ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

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 ...

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 ...

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 ...