title: De novo interstitial tandem duplication of chromosome 4(q21-q28).
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.
authors.affiliation: Unidad Técnica de Genética Humana, Centro de Bioquímica y Genética Clínica, Murcia, Spain.
authors.forename: E G
authors.initials: EG
authors.lastname: Navarro
authors.forename: M C
authors.initials: MC
authors.lastname: Romero
authors.forename: I L
authors.initials: IL
authors.lastname: Expósito
authors.forename: C M
authors.initials: CM
authors.lastname: Velasco
authors.forename: J G
authors.initials: JG
authors.lastname: Llamas
authors.forename: F J
authors.initials: FJ
authors.lastname: Ramón
authors.forename: R D
authors.initials: RD
authors.lastname: Jimenez
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D005810:Multigene Family; D011596:Psychomotor Disorders / Q000150:complications*