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X-linked genetic disorders can arise when there is a spontaneous and permanent change in the DNA sequence of an X-linked gene, known as mutation. Traits or diseases caused by X chromosome genes follow X-linked inheritance, the difference between recessive and dominant inheritance affects the probability of an offspring acquiring it from the ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder ...
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. [4][5] These features include a tall, thin stature and long, slender limbs. [5]
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
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 ...
Specialty. Neurology. X-linked dystonia parkinsonism (XDP), also known as lubag syndrome or X-linked dystonia of Panay, is a rare X-linked progressive movement disorder with high penetrance found almost exclusively in males from Panay. [1] It is characterized by dystonic movements first typically occurring in the 3rd and 4th decade of life.
McLeod syndrome (/ məˈklaʊd / mə-KLOWD) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for ...