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Review
. 1996 Mar 29;62(3):297-9.
doi: 10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F.

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

E G Navarro  1 , M C Romero, I L Expósito, C M Velasco, J G Llamas, F J Ramón, R D Jimenez
Affiliations
Review

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

E G Navarro et al. Am J Med Genet. .

Abstract

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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