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An X-linked genetic disease is a disease inherited through a genetic defect on the X chromosome. In human cells, there is a pair of non-matching sex chromosomes, labelled X and Y. Females carry two X chromosomes, whereas males have one X and one Y chromosome. A disease or trait determined by a gene on the X chromosome demonstrates X-linked ...
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3][4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness. Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of ...
Menkes disease. Menkes disease (MNK), also known as Menkes syndrome, [ 1 ][ 2 ] is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, [ 3 ] leading to copper deficiency. [ 4 ][ 5 ] Characteristic findings include kinky hair, growth failure, and nervous system deterioration.
Duchenne muscular dystrophy is caused by mutations and/or deletions in any of the 79 exons encoding the large dystrophin protein, which is essential for maintaining the muscle fiber's cell membrane integrity. [3] The disorder follows an X-linked recessive inheritance pattern, with approximately two-thirds of cases inherited from the mother and ...
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome. [3][4]
Specialty. Hematology. X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...