Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Fernández-Jaén A, Castellanos Mdel C, Fernández-Perrone AL, Fernández-Mayoralas DM, de la Vega AG, Calleja-Pérez B, Fernández EC, Albert J, Hombre MC.
Fernández-Jaén A, et al.
Am J Med Genet A. 2014 Aug;164A(8):2043-7. doi: 10.1002/ajmg.a.36559. Epub 2014 May 16.
Am J Med Genet A. 2014.
PMID: 24838842
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by s …
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable …