![]() After reading about the worst-case scenarios, I was actually able to find useful information. Turner syndrome is a non-inherited chromosomal disorder that describes girls and women with common features and physical traits caused by complete or partial absence of the second sex chromosome. What would Turner Syndrome mean for her? Will she get sick? Does this affect her life expectancy? What? After we left the doctor's office, we went home and did what any loving parent would do - researched Turner Syndrome! I would later discover, and continue to discover, that she is more perfect than I could have ever imagined. Briefly, I allowed myself to feel sorry for her in thinking that she may not be perfect. Even though I had never heard of Turner Syndrome, my heart sank. However, she wanted to test Kaylei for a chromosomal disorder called Turner Syndrome. At the end of the visit, she assured my husband and me that Kaylei is a healthy little girl. She also questioned and noted the numerous moles Kaylei had. She checked Kaylei's hairline on the back of her neck, looked closely at her elbows and checked her toenails. The pediatrician gave Kaylei a thorough check up that included a few things that her other pediatricians had not done during past visits. How could I not notice that she wasn't getting any taller? I'm her mother all I could see was a beautiful little girl. This was the average height for a 3 year old and meant that Kaylei was shorter than 95 percent of girls her age. Kaylei was measured at just over 36 inches tall. The visit started with a pause from the pediatrician as she looked at Kaylei's dad, Kaylei's brother and then me. Kaylei's five-year, well-baby appointment would prove that wasn't the reason at all. I had convinced myself for years that Kaylei's short stature was because her grandmother is only 5 feet 2 inches tall. This call came after a long week of waiting for results of a test I was sure was unnecessary. Editor's Note: This story was written by a Buckley Air Force Base military spouse in an effort to raise awareness for Turner Syndrome. Individuals with a ring chromosome X can have a more severe phenotype that includes intellectual disability.įor information about testing, see Clinical suspicion of Turner syndrome.BUCKLEY AIR FORCE BASE, Colo. ![]() These individuals are also at risk of gonadoblastoma. Mosaic Turner syndrome may occur where an individual has a combination of cell lines (for example, 45,X/46,XX or 45,X/46,XY).įemales with partial deletion (with or without rearrangement) or mosaic forms may have streak ovaries without the full phenotypic features.Īlthough Turner syndrome is a condition that primarily affects girls, boys can have a mosaic 45,X/46,XY karyotype with some of the features of Turner syndrome (though this is rare).This usually occurs due to maternal or paternal nondisjunction. Monosomy X: By far the most common anomaly to cause Turner syndrome, in monosomy X there is a complete absence of one of the two X chromosomes.There are a number of ways in which this can happen. Turner syndrome occurs when there is an anomaly of one X chromosome. the usual puberty associated growth spurt does not occur in Turner syndrome, and/or there are no signs of puberty at all (or menarche is absent), which is usually associated with infertility (streak ovaries).all features listed under childhood also apply to teenage years and.increased risk of certain autoimmune conditions such as diabetes, thyroid disease and coeliac disease.typically a normal IQ, however a mild cognitive-behavioural phenotype is recognised, including difficulties in visual-spatial function, executive function and emotional processing and.cardiac and/or renal anomalies, particularly coarctation of the aorta and/or horseshoe kidney.webbed neck and unusual habitus, with widened carrying angle and widely spaced nipples.short stature: height is usually normal for the first three years of life but then growth velocity slows.webbed neck with extra skin fold crease and.a nuchal translucency that is raised, often significantly so, which may be the result of a cystic hygroma.
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