- Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father’s sperm or in the mother’s egg. This results in every cell in the body having only one X chromosome.
- Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome, or they have one complete and one altered copy.
- Y chromosome material. In a small percentage of Turner Syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.
Effect of the chromosomal errorsThe missing or altered X chromosome of Turner Syndrome causes errors during fetal development. There are other developmental problems seen after birth, including short stature, ovarian failure and learning disabilities. Physical characteristics and health complications that arise from the chromosomal error vary greatly. A pregnancy and childbirth specialist (obstetrician) may ask if you are interested in additional tests to make a diagnosis before your baby’s birth. One of two procedures can be performed to test for Turner Syndrome:
- Chorionic villus sampling. This involves removal of a small piece of tissue from the placenta.
- Amniocentesis. In this test, a sample of the amniotic fluid is taken from the uterus.
- Large fluid collection on the back of the neck or other abnormal fluid collections
- Heart abnormalities
- Abnormal kidneys
Health care teamTurner Syndrome can result in several developmental problems and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. Physicians will change as your child transitions through the stages of her life. Your family doctor or pediatrician will coordinate care. Specialists on your care team may include some or all of these professionals:
- Hormone disorder specialist (endocrinologist)
- Heart specialist (cardiologist)
- Specialist in women’s health (gynecologist)
- Specialist in skeletal disorders (orthopedist)
- Ear, nose and throat (ENT) specialist
- Dental specialist in correcting problems with the alignment of teeth (orthodontist)
- Specialist in vision problems and other eye disorders (ophthalmologist)
- Mental health provider, such as a psychologist or psychiatrist
- Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
- Special education instructors
- Medical geneticist
Can Turner Syndrome be prevented or cured?
TS is a random disorder caused by not having the typical pair of X chromosomes. TS cannot be prevented nor is there a cure. TS is found in every 1 in 2,000 living females. When survivable, TS is a treatable and manageable condition.
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