Autosomal recessive inheritance

Autosomal recessive inheritance

Two copies of an altered gene located on one of the autosomes must be present for an individual to be affected with the trait or condition determined by that gene:
References in periodicals archive ?
Situs Inversus is a rare congenital developmental anomaly with autosomal recessive inheritance wherein the position of organs in chest and abdomen are reversed along sagittal plane.
Familial cases show autosomal recessive inheritance.
It can be inherited through autosomal dominant inheritance, in which one gene for the condition expresses itself in an individual; or through autosomal recessive inheritance, in which the recessive (unexpressed) gene is passed from each parent and the two genes are paired together, causing the disorder to be expressed in the child.
Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease).
Lafora disease (also known as Lafora Body disease) is a rare neurometabolic disorder of autosomal recessive inheritance, which is generally caused by a mutation in EPM2A (4,8,13) or EPM2B genes.
Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia--further delineation and evidence for autosomal recessive inheritance.
An explanation of autosomal recessive inheritance pattern describes the genetics of cystic fibrosis and thalassemia; an explanation of X-linked inheritance is critical to understanding the genetics of Fragile X syndrome.
The clinical appearance and genetic basis of familial isolated growth hormone deficiency (IGHD) are heterogeneous and are associated with at least four types of Mendelian disorders: two forms with autosomal recessive inheritance (IGHD type 1A and 1B), one with autosomal dominant inheritance (IGHD type 2), and one with X-linked inheritance (IGHD type 3) (1, 2).
The assumption of an autosomal recessive inheritance in SDS is based predominantly on reports of familial incidence.
US is passed along in families by autosomal recessive inheritance, which requires two copies of the US gene before the disorder is seen.
The presence of two nephews with Mohr syndrome within an extremely consanguineous family is suggestive of an autosomal recessive inheritance of this condition [1, 7].
Note that renal failure in African Americans can now frequently be linked to autosomal recessive inheritance of common APOLl mutations.

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