Search results
Results from the WOW.Com Content Network
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 ...
X-linked intellectual disability. X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] Females with one affected X chromosome and one normal X chromosome tend to have ...
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 ...
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.
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.
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1] It is found to be linked to the X chromosome and caused by a mutation in ...
Sex linkage. Sex linked describes the sex-specific reading patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three ...