TRISOMY 22Q12-]QTER - ANEUSOMIE-DE-RECOMBINAISON OF A PERICENTRIC-INVERSION

  • 1 January 1981
    • journal article
    • research article
    • Vol. 24  (1) , 37-40
Abstract
A 10 day old girl affected with 22q12.fwdarw.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. Arylsulfatase-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.fwdarw.qter segment. The segment 22q12.fwdarw.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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