The facts on the chromosome syndrome that affects one in 2,500 baby girls Dr Henry Turner, a specialist in the diseases of the internal organs, from the University of Oklahoma, first identified a set of common physical features in seven of his patients in an article published in 1938.

The chromosomal deficiency that now defines Turner syndrome (TS) wasn't discovered until 1959, when the technology to perform karyotypes (chromosome analysis) became available.

Chromosomes are genetic material inherited from both parents. Normally each cell in the body has 23 pairs of chromosomes, which make 46 chromosomes in total.

One pair of chromosomes are the sex chromosomes. These determine the sex of a baby.

A boy has an X and a Y chromosome (46XY) while a girl has two X chromosomes (46XX).

A TS girl has only one X chromosome, with the other being either damaged or missing.

No cause has been found to explain this condition.

It appears to be a random event that can happen to anyone.

To diagnose TS, a karyotype is used to analyse the girl's chromosomal
composition.

Common physical characteristics of TS include short stature (an average adult height of 1.39m), puffy hands and feet, a broad chest with widely spaced nipples, droopy eyelids, a webbed neck, arms that turn out slightly at the
elbow, and a low hairline at the back of the head.

The prognosis There is no ovarian development in girls with TS, and they may even have tissue normally found in the male sex organs.

Because of this, they may fail to develop sexual characteristics during adolescence and may be infertile.

TS women are also prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders such as scoliosis (curvature of the spine) or dislocated hips, and hearing and ear disturbances.

Intellectually, girls with TS are not mentally disabled, but they may have learning problems, especially in arithmetic. Many also have greater difficulty on tasks requiring spatial skills, like map reading, puzzles and visual organisation.

Since the defect is chromosomal, there is no 'cure' for TS.

But the symptoms can be minimised. For example, growth hormones can be administered to improve growth and height, and oestrogen replacement can be given to promote the development of secondary sexual characteristics.

Pregnancy is even possible, by using a donor egg to create an embryo, which is then carried by the woman who has Turner Syndrome.

The Turner Syndrome Society of Canada (www.turnersydrome.ca); Turner Syndrome Society of the United States (www.turner-syndrome-us.org); and Britain's Turner Syndrome Support Society (www.tss.org.uk)

Detractors of Ms Boivin

"I think this is truly weird and should not be allowed. Don't tinker with nature - it could go the wrong way."

"I would rather adopt than give birth to my sibling - there is just something not right about it."

"Developments in science went too far a long time ago. If you can't conceive naturally, either adopt, foster or accept the fact that you will never be a parent."

"It is a selfish act. The mother should encourage her daughter to understand that there is absolutely nothing wrong with a woman who is infertile."

"It is not a human right to have children."

Her defenders

"I think this donation is made out of love and compassion. It should be encouraged."

"This mother is showing how much she cares about her daughter, by thinking about her future, and providing a very special gift, should she want it."

"I do not think this is unethical, so long as the child is given the chance to decide."

Support for sufferers

NUH Turner Support Group

The group is organised for patients with Turner syndrome, as well as their families. The Children's Medical Institute organises meetings and parties for members of the group.

Reach them at:
NUH Turner Support Group,
Children's Medical Institute, National University Hospital, 5 Lower Kent Ridge
Road
Tel: 6772-4420
E-mail: jinaloh@nus.edu.sg

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