Knowra Turner syndrome Turner syndrome Turner syndrome is a chromosomal condition in which some or all cells have one complete X chromosome and lack all or part of a second sex chromosome. Its features vary widely and can include short stature, ovarian insufficiency, and congenital heart or kidney differences.
45,X : A chromosome complement containing 45 chromosomes, including one X chromosome and no second sex chromosome. This is the classic chromosome pattern associated with Turner syndrome.
Karyotype : An organized display of an individual's chromosomes used to assess their number and structure. Chromosome analysis can confirm the diagnosis and identify some mosaic patterns.
45,X/46,XX mosaicism : A mosaic chromosome pattern in which some cells have 45,X and others have 46,XX. This common mosaic pattern can be associated with milder or less typical features.
Klinefelter syndrome : A sex chromosome condition, usually 47,XXY, affecting people with a Y chromosome and an additional X chromosome. It contrasts with Turner syndrome’s loss or alteration of a sex chromosome.
Mosaicism : The presence of two or more genetically distinct cell populations in one individual. Different cell lines help explain the condition’s varied features.
Growth hormone therapy : Treatment with growth hormone to increase growth in people with growth hormone deficiency or certain growth disorders. It can improve adult height when started during childhood.
Isochromosome Xq : A structurally altered X chromosome with two copies of its long arm and loss of its short arm. This is one structural chromosome variant found in Turner syndrome.
Triple X syndrome : A sex chromosome condition in which a person has three X chromosomes, usually 47,XXX. It shows how an extra X chromosome differs from Turner syndrome’s missing or altered chromosome.
X chromosome : One of the two human sex chromosomes, carrying genes involved in many bodily functions. The condition arises from loss or alteration of all or part of this chromosome.
Estrogen replacement therapy : Treatment that supplies estrogen when the body does not produce enough of the hormone. It supports pubertal development and bone health when ovarian function is insufficient.
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