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Denise and Chad were told their daughter had only a 1 percent chance of surviving to term. When Denise was 12 weeks into her pregnancy, she went in for a first-trimester screening, a combination of a blood test and ultrasound imaging. “During the beginning of the ultrasound we were thrilled to see our baby,” she remembers. “But looking back we realize the technician did not say a word. Our blissful happy family moment changed dramatically when, all of a sudden, several other people came into the room — doctors, nurses and geneticists. They told us there were some major concerns with our baby. We were numb as the doctors pointed out the large amount fluid behind the neck and said it was most likely Turner syndrome (TS).”Violet was born at 37 weeks and weighed just under 7 pounds at birth.Violet was a happy and active baby. She met her developmental milestones without delay. She started on the low end of the standard growth chart and is now tracked in comparison to other children with Turner syndrome. At 3, she is wearing 12- to 18-month clothes.After the dire outlook leading up to her birth, Denise and Chad can hardly believe that they have a delightful little girl. And they appreciate the people at CHOP for helping make it all possible.

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chromosomal condition that effects development in females. a common feature in turner syndrome is short stature, early loss of ovarian function. about 30 percent of females with turner syndrome have extra fold of skin on the neck, a low hairline on the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities or kidney problems.

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This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

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Turner Syndrome is related to the X chromosomes which mostly affects the female because females have two X chromosemes  while males only have one X chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

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Most cases of Turner syndrome are not inherited.the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome.Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.