Turner Syndrome News and Research

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Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turner syndrome may have only a few features, while others may have many. Almost all people with Turner syndrome have short stature and loss of ovarian function, but the severity of these problems varies considerably amongst individuals.

Y chromosome may be responsible for a range of sex disorders

The unique mechanism behind the evolutionary survival of the human Y chromosome may also be responsible for a range of sex disorders, from failed sperm production to sex reversal to Turner Syndrome.

3 Sep 2009

Mutations of gene regulators can result in growth disorders

A specific gene is particularly frequently involved in the development of short stature. Researchers in Heidelberg have now discovered that sequences of genetic material on the X and Y chromosome that regulate this gene are also crucial for growth in children.

26 Aug 2009

Prenatal biochemical screening only detects half of chromosomal abnormalities

Prenatal biochemical screening tests are widely used to look for chromosomal abnormalities in the fetus which can lead to serious handicap, or even death during gestation or in the first few days after birth. But these tests are only able to detect fewer than half of the total chromosomal abnormalities in the fetus, a scientist will tell the annual conference of the European Society of Human Genetics tomorrow (Monday 2 June) Dr. Francesca R. Grati, of the TOMA Laboratory, Busto Arsizio, Italy, says that these findings mean that women should be better informed on the limitations of such diagnostic tests.

1 Jun 2008