Tags

Type your tag names separated by a space and hit enter

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Am J Med Genet A 2014; 164A(8):2043-7AJ

Abstract

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 severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.

Authors+Show Affiliations

Pediatric Neurology Unit, Quiron University Hospital, Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24838842

Citation

Fernández-Jaén, Alberto, et al. "Cerebral Palsy, Epilepsy, and Severe Intellectual Disability in a Patient With 3q29 Microduplication Syndrome." American Journal of Medical Genetics. Part A, vol. 164A, no. 8, 2014, pp. 2043-7.
Fernández-Jaén A, Castellanos Mdel C, Fernández-Perrone AL, et al. Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. Am J Med Genet A. 2014;164A(8):2043-7.
Fernández-Jaén, A., Castellanos, M. d. e. l. . C., Fernández-Perrone, A. L., Fernández-Mayoralas, D. M., de la Vega, A. G., Calleja-Pérez, B., ... Hombre, M. C. (2014). Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. American Journal of Medical Genetics. Part A, 164A(8), pp. 2043-7. doi:10.1002/ajmg.a.36559.
Fernández-Jaén A, et al. Cerebral Palsy, Epilepsy, and Severe Intellectual Disability in a Patient With 3q29 Microduplication Syndrome. Am J Med Genet A. 2014;164A(8):2043-7. PubMed PMID: 24838842.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome. AU - Fernández-Jaén,Alberto, AU - Castellanos,María del Carmen, AU - Fernández-Perrone,Ana Laura, AU - Fernández-Mayoralas,Daniel Martín, AU - de la Vega,Alberto González, AU - Calleja-Pérez,Beatriz, AU - Fernández,Ester Corbacho, AU - Albert,Jacobo, AU - Hombre,María Carmen Sánchez, Y1 - 2014/05/16/ PY - 2013/09/20/received PY - 2014/03/10/accepted PY - 2014/5/20/entrez PY - 2014/5/20/pubmed PY - 2015/4/1/medline KW - 3q29 microduplication KW - cerebral palsy KW - epilepsy KW - membrane proteins KW - p21-activated kinases SP - 2043 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 164A IS - 8 N2 - 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 severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24838842/Cerebral_palsy_epilepsy_and_severe_intellectual_disability_in_a_patient_with_3q29_microduplication_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.36559 DB - PRIME DP - Unbound Medicine ER -