Autotransfusion Procedure

A chromosome not involved in sex determination. The diploid human genome consists of a total of 46 chromosomes which includes 22 pairs…

Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait…

An inherited disorder manifested only when two copies of a mutated gene are present.

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e.,…

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability…

Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high…