TRISOMY (1Q) (Q42-]QTER) - CONFIRMATION OF A SYNDROME

  • 1 October 1988
    • journal article
    • research article
    • Vol. 34  (4) , 224-229
Abstract
This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42 .fwdarw. qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful. The clinical abnormalities reported here, most of which were included amongst other in the previous reports of trisomy (1q)(q42 .fwdarw. qter), provide the basis for characterization of this condition as a syndrome. These changes comprised macrocephaly, prominent forehead, micrognathia, large fontanelle, flat nasal bridge, low-set ears, facial capillary naevi, cardiac defect and small size for gestational age.

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