Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47, XX+22.
CITATION STYLE
Nicholl, R. M., Grimsley, L., Butler, L., Palmer, R. W., Rees, H. C., Savage, M. O., & Costeloe, K. (1994). Trisomy 22 and intersex. Archives of Disease in Childhood, 71(1 SUPPL.). https://doi.org/10.1136/fn.71.1.f57
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