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Am J Med Genet. 1996 Mar 29;62(3):297-9.

De novo interstitial tandem duplication of chromosome 4(q21-q28).

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  • 1Unidad Técnica de Genética Humana, Centro de Bioquímica y Genética Clínica, Murcia, Spain.


We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q.

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