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Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
Gene 2013; 531(2):502-5GENE

Abstract

Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein-Taybi region encompassing only the CREBBP gene. Nevertheless, variable or incompletely penetrant phenotype has been reported previously. We here report a case of a 5-year old boy with a recognizable phenotype of this syndrome, including intellectual disability, mild arthrogryposis, small and proximally implanted thumbs and characteristic facial features. In addition, growth delay, microcephaly and distinguishable structural brain MRI abnormalities were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat polymorphism (STRP) analysis with marker D16S475 indicated that the duplication was formed before maternal meiosis II. Our findings highlight the variable clinical features and further expand the phenotypic spectrum correlated with this lately proposed syndrome.

Authors+Show Affiliations

State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.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
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24035902

Citation

Li, Zhuo, et al. "Phenotypic Expansion of the Interstitial 16p13.3 Duplication: a Case Report and Review of the Literature." Gene, vol. 531, no. 2, 2013, pp. 502-5.
Li Z, Liu J, Li H, et al. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature. Gene. 2013;531(2):502-5.
Li, Z., Liu, J., Li, H., Peng, Y., Lv, W., Long, Z., ... Wu, L. (2013). Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature. Gene, 531(2), pp. 502-5. doi:10.1016/j.gene.2013.09.006.
Li Z, et al. Phenotypic Expansion of the Interstitial 16p13.3 Duplication: a Case Report and Review of the Literature. Gene. 2013 Dec 1;531(2):502-5. PubMed PMID: 24035902.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature. AU - Li,Zhuo, AU - Liu,Jing, AU - Li,Haoxian, AU - Peng,Ying, AU - Lv,Weigang, AU - Long,Zhigao, AU - Liang,Desheng, AU - Wu,Lingqian, Y1 - 2013/09/12/ PY - 2013/07/23/received PY - 2013/08/26/revised PY - 2013/09/03/accepted PY - 2013/9/17/entrez PY - 2013/9/17/pubmed PY - 2013/12/24/medline KW - ASD KW - BAC KW - CNV KW - CREBBP KW - DD KW - DQ KW - F KW - FISH KW - Growth delay KW - ID KW - IUGR KW - Intellectual disability KW - Interstitial 16p13.3 duplications KW - M KW - MRI KW - SD KW - SNP KW - SNP array KW - STRP KW - atrial septal defect KW - bacterial artificial chromosome KW - copy number variation KW - cyclic AMP response element binding protein KW - dUTP KW - deoxyuridine triphosphate KW - development quotient KW - developmental delay KW - female KW - fluorescence in situ hybridization KW - intellectual disability KW - intrauterine growth retardation KW - magnetic resonance imaging KW - male KW - short tandem repeat polymorphism KW - single nucleotide polymorphism KW - standard deviation SP - 502 EP - 5 JF - Gene JO - Gene VL - 531 IS - 2 N2 - Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein-Taybi region encompassing only the CREBBP gene. Nevertheless, variable or incompletely penetrant phenotype has been reported previously. We here report a case of a 5-year old boy with a recognizable phenotype of this syndrome, including intellectual disability, mild arthrogryposis, small and proximally implanted thumbs and characteristic facial features. In addition, growth delay, microcephaly and distinguishable structural brain MRI abnormalities were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat polymorphism (STRP) analysis with marker D16S475 indicated that the duplication was formed before maternal meiosis II. Our findings highlight the variable clinical features and further expand the phenotypic spectrum correlated with this lately proposed syndrome. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/24035902/Phenotypic_expansion_of_the_interstitial_16p13_3_duplication:_a_case_report_and_review_of_the_literature_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(13)01180-3 DB - PRIME DP - Unbound Medicine ER -