Mm. Khalifa et al., ADDITIONAL CASE OF DE-NOVO INTERSTITIAL DELETION DEL(17)(Q21.3Q23) AND EXPANSION OF THE PHENOTYPE, Clinical genetics, 44(5), 1993, pp. 258-261
A child with multiple congenital abnormalities and a de novo interstit
ial deletion of the long arm of chromosome 17 is reported. This is the
third case reported with this chromosome abnormality. The three cases
present a peculiar phenotype, which is probably specific to the delet
ion.