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Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
The X chromosome carries hundreds of genes but few, if any, of these have anything to do directly with sex determination. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells).
Diagnosing a chimera or mosaic is particularly difficult due to the random distribution of 46,XX and 46,XY cells within the body. In a chimeric, an organ might be made up of a mix of 46,XX and 46,XY, but is made up entirely only one genotype. When that is the case, no abnormalities are noted and other types of tissues need to be analyzed. [15]
Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome; 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis; 46, XX/XY
Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. [20] Other examples include complete androgen insensitivity syndrome, partial X chromosome deletions, lipoid congenital adrenal hyperplasia, and Turner syndrome. [21]
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...