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

✍ Scribed by Navarro, E. Guillen; Romero, M. C. Martinez; Expósito, I. Lopez; Velasco, C. Mendez; Llamas, J. Gabarrón; Ramón, F. J. Hernandez; Jimenez, R. Domingo

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
20 KB
Volume
62
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19960329)62:3<297::aid-ajmg18>3.0.co;2-f

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✦ Synopsis

We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-28. 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. 0

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