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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Journal article
Authors L. Myers
M. Blyth
K. Moradkhani
D. Hranilovic
Sam Polesie
J. Isaksson
A. Nordgren
M. Bucan
M. Vincent
S. Bolte
B. M. Anderlid
K. Tammimies
Published in Molecular Genetics & Genomic Medicine
ISSN 2324-9269
Publication year 2019
Published at Institute of Clinical Sciences, Department of Dermatology and Venereology
Language en
Keywords ADHD, autism spectrum disorder, chromosome 12, duplication, phenotype, intrauterine growth restriction, intellectual disability, deletion, autism, arid2, individuals, mutations, genes, twin, Genetics & Heredity
Subject categories Medical Genetics


Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature. Methods We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb. Results The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication. Conclusion This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

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