Emerging phenotype of duplication (7p): A report of three cases and review of the literature
- 1 July 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 33 (3) , 364-368
- https://doi.org/10.1002/ajmg.1320330315
Abstract
Here we report on three patients with dup (7p) and review the previously published 17 cases. Characteristic manifestations include severe/profound psychomotor retardation, dolicho‐cephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low‐set ears, micrognathia, choanal atresia/stenosis, hyper‐extensible 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.Keywords
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