A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and interpreted to be the result of a triple dosage of the gene, whose localization would be within the 22q12 leads to qter segment. It is concluded that the segment 22q12 leads to qter, rather than band q11 as previously suggested, plays an important role in determining the phenotypical abnormalities which characterize the trisomy 22 syndrome.
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