Turner's Syndrome
- Genetic abnormality with a 45 XO Karyotype, occuring with a 1 in 2500 frequency
- Huge amount of phenotypical variation, in part because approximately 45% of cases show mosaicism
- Almost invariably short, mean height approximately 143cm
- Most have normal IQ
Other features:
Ovarian dysgenesis (>90%), congenital lymphoedema (80%), low posterior hair line (>80%), neck webbing (50%), ear abnormalities (80%), deafness (50%), broad chest with widely spaced nipples (80%), cubitus valgus (70%), hypoplastic nails (>70%), renal abnormalities (>60%) and cardiac abnormalities (30%).
The image to the left illustrates the short stature, web-necked, broad chest, widely spaced nipples and cubitus valgus - the increased angle as the forearms come away from the body in the anatomical position.
Image from Pharmacia & Upjohn teaching resources