Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature |
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Authors: | Zhuo Li Jing Liu Haoxian Li Ying Peng Weigang Lv Zhigao Long Desheng Liang Lingqian Wu |
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Institution: | 1. State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China;2. Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, China |
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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. |
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Keywords: | ASD atrial septal defect BAC bacterial artificial chromosome CNV copy number variation CREBBP cyclic AMP response element binding protein DD developmental delay DQ development quotient dUTP deoxyuridine triphosphate F female FISH fluorescence in situ hybridization ID intellectual disability IUGR intrauterine growth retardation M male MRI magnetic resonance imaging SD standard deviation SNP single nucleotide polymorphism STRP short tandem repeat polymorphism |
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