11 beta-Hydroxyandrostene-3,17-dione (11 beta-hydroxyandrostenedione), a potential marker for prenatal diagnosis of CAH, has been for the first time determined in amniotic fluid obtained from 68 women who later delivered children without endocrine disorders. Its concentration averaged 0.96 +/- 0.31 (S.D.) (range 0.48-1.85) nmol/l and did not depend on the fetal sex. There was mild, insignificant increase of these values along with duration of pregnancy.
A 30-month-old girl is presented with a deletion of the X chromosome at q 22 when examined by G- and Q-banding techniques. She exhibited dystrophia, mental and motor retardation, shortened extremities, lymphoedema, frontal protrusion of the forehead and slightly deformed ears.
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