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A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
Am J Med Genet A 2012; 158A(1):50-8AJ

Abstract

We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome.

Authors+Show Affiliations

Alpert Medical School of Brown University, Providence, Rhode Island, USA.No 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

22052655

Citation

Sofos, Elvera, et al. "A Novel Familial 11p15.4 Microduplication Associated With Intellectual Disability, Dysmorphic Features, and Obesity With Involvement of the ZNF214 Gene." American Journal of Medical Genetics. Part A, vol. 158A, no. 1, 2012, pp. 50-8.
Sofos E, Pescosolido MF, Quintos JB, et al. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. Am J Med Genet A. 2012;158A(1):50-8.
Sofos, E., Pescosolido, M. F., Quintos, J. B., Abuelo, D., Gunn, S., Hovanes, K., ... Shur, N. (2012). A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. American Journal of Medical Genetics. Part A, 158A(1), pp. 50-8. doi:10.1002/ajmg.a.34290.
Sofos E, et al. A Novel Familial 11p15.4 Microduplication Associated With Intellectual Disability, Dysmorphic Features, and Obesity With Involvement of the ZNF214 Gene. Am J Med Genet A. 2012;158A(1):50-8. PubMed PMID: 22052655.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene. AU - Sofos,Elvera, AU - Pescosolido,Matthew F, AU - Quintos,Jose B, AU - Abuelo,Dianne, AU - Gunn,Shelly, AU - Hovanes,Karine, AU - Morrow,Eric M, AU - Shur,Natasha, Y1 - 2011/11/03/ PY - 2011/02/11/received PY - 2011/07/27/accepted PY - 2011/11/5/entrez PY - 2011/11/5/pubmed PY - 2013/6/21/medline SP - 50 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 158A IS - 1 N2 - We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29 megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/22052655/A_novel_familial_11p15_4_microduplication_associated_with_intellectual_disability_dysmorphic_features_and_obesity_with_involvement_of_the_ZNF214_gene_ L2 - https://doi.org/10.1002/ajmg.a.34290 DB - PRIME DP - Unbound Medicine ER -