SOX9 is one of the genes that play critical roles in male sexual differentiation. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. A newborn infant was referred for
Trisomy 9 mosaicism and XX sex reversal
β Scribed by Benjamin D. Solomon; Clesson E. Turner; Darren Klugman; Susan E. Sparks
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 84 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early deat
## Abstract The Sry gene product serves an important function in male sex determination through testis induction. However, testicular development has been reported in SRYβnegative XX sex reversed humans. XX sex reversal of the American cocker spaniel, inherited as an autosomal recessive trait, may