Center for Interdisciplinary Brain Sciences Research

Turner Syndrome

What is Turner syndrome?

Turner syndrome (45,X) is a genetic disorder that occurs only in females and arises from partial or complete absence of the X chromosome. Turner syndrome occurs in 1 in 2,500 female births. H.H.Turner first described Turner syndrome in 1938 and the chromosomal basis of this syndrome was established in 1959 by Ford.

The physical phenotype of this syndrome includes:

The neurocognitive profile of females with Turner syndrome includes:

The psychosocial profile of females with Turner syndrome includes:

What causes Turner Syndrome?

Turner syndrome is the only sex chromosome disorder in which complete absence of an X chromosome is compatible with life. The loss of one of the sex chromosomes in Turner syndrome probably occurs after the zygote has formed or just after the fusion of the gametes. It has been determined that approximately 50% of cases have a 45,X karyotype with the remainder having mosaic karyotypes. In addition, it has been found that in 70 to 80 % of the cases, the retained X is maternal in origin. Researchers have begun to speculate as to the possibility that genes are present on the X chromosome which are expressed differently depending on the parental origin of the X chromosome. The effects of genomic imprinting can be analyzed from the standpoint of physical and physiologic parameters in females with Turner syndrome.

Current TS Research at Stanford

Mosaic Karyotype in Turner Syndrome

Participating in Research

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Study Results/Publications

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