What is the other name of Turner Syndrome? Ullrich-Turner syndrome What is the m/c sex chromosome disorder in female? Turner syndrome and occurs in approximately 1 in 2000 to 1 in 2500 live female births. What are the genotypes of Turner syndrome? 45X monosomy in 45% of cases 45X mosaicism with normal cell line in 15% cases X chromosome anomalies like - Isochromosome, Ring chromosome, Xp or Xq deletion Y chromosome mosaicism in 10-12% cases. What gene is responsible for short stature in Turner syndrome? SHOX (short stature homeobox-containing gene on the X-chromosome) is associated with short stature in Turner syndrome and in Leri-Weill dyschondrosteosis. What gene is responsible for gonadal insufficiency in Turner syndrome? BMP15 (bone morphogenetic protein 15 (BMP15) on the short arm of the X chromosome (Xp)). What is the frequency of the 45X karyotype at conception? 3% approx, but 99% of these are spontaneously aborted, accounting for 5–10% of all abortuses. Mosaics are found to
Simplified Medical notes. Medical notes in QnA format Mcqs
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