Ullrich‐Turner syndrome in an XY female fetus with deletion of the sex‐determining portion of the Y chromosome

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Abstract
Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich–Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the karyotype was 46,XY, with no evidence of mosaicism for a 45,X cell line. Y‐DNA hybridization studies demonstrated a deletion of the sex‐determining segment of the short arm of the Y chromosome. This is the first report, in a fetus, of XY Ullrich‐Turner syndrome due to a Y chromosome deletion.