Downs syndrome

Down Syndrome: Trisomy 21

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Fragile X

X-Linked Intellectual Disability: Fragile X

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Turner Syndrome

Turner Syndrome

Turner Syndrome occurs in 1:2000 girls born in Australia each year. It is due to a chromosomal abnormality where the girls are missing or have a rearrangement of one of their X chromosomes (45XO). The girls have characteristic physical features and are of normal intelligence. Diagnosis occurs either following prenatal screening or in childhood with short stature, heart problems or delayed puberty. Health Surveillance and management is complex. There is a comprehensive amount of information available on line including a number of fact sheets and recently published clinical practice guidelines and a useful Health Checklist. Fact sheets include information on pubertal induction talking to you daughter about her diagnosis, foot care and spatial learning problems.

 

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Klinefelter syndrome

Klinefelter Syndrome

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