title: Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
abstract: Here we report on three patients with dup (7p) and review the previously published 17 cases. Characteristic manifestations include severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, micrognathia, choanal atresia/stenosis, hyperextensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects. Our analysis suggests that dup(7p) is associated with a recognizable characteristic phenotype.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118.
authors.forename: J M
authors.initials: JM
authors.lastname: Milunsky
authors.forename: H E
authors.initials: HE
authors.lastname: Wyandt
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D005810:Multigene Family; D011596:Psychomotor Disorders / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic