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Neurodevelopmental and associated changes in a patient with Xp22.31 duplication

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References

  1. Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DAS (2010) Interstitial microduplication of Xp22.31: causative of intellectual disability or benign copy number variant? Eur J Med Genet 53:93–99

    Article  Google Scholar 

  2. Furrow A, Theisen A, Velsher L, Bawle EV, Sastry S, Mendelsohn NJ et al (2011) Duplication of the STS region in males is a benign copy-number variant. Am J Med Genet A 155A:1972–1975

    Article  Google Scholar 

  3. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD et al (2011) Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet 20:1975–1988

    Article  Google Scholar 

  4. Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L (2014) Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. Am J Med Genet A 164A:2097–2103

    Article  Google Scholar 

  5. Addis L, Sproviero W, Thomas SV, Caraballo RH, Newhouse SJ, Gomez K, Hughes E, Kinali M, McCormick D, Hannan S, Cossu S, Taylor J, Akman CI, Wolf SM, Mandelbaum DE, Gupta R, van der Spek RA, Pruna D, Pal DK (2018) Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. J Med Genet 55:607–616

    Article  CAS  Google Scholar 

  6. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD et al (2011) Copy number gain at Xp22.31 includes complex duplicationrearrangements and recurrent triplications. Hum Mol Genet 20:1975–1988

    Article  Google Scholar 

  7. Sorokin A, Szekely A, Jabbari B (2013) Tremor as a prominent feature in Xp22.31 microduplication: a novel association. Neurology 80; supplement 7(p05.040)

  8. Pang T, Atefy R, Sheen V (2008) Malformations of cortical development. Neurologist 14:181–191

    Article  Google Scholar 

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Acknowledgments

The present case report is dedicated to the memory of Dr. John Fernandes who was the primary pathologist contributing to this case report.

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Correspondence to Jian-Qiang Lu.

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Dr. Mark Tarnopolsky is the CEO of Exerkine Corporation and the company is working on therapies that target mitochondrial dysfunction; the remaining authors declare that they have no conflict of interest.

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MacColl, C., Stein, N., Tarnopolsky, M. et al. Neurodevelopmental and associated changes in a patient with Xp22.31 duplication. Neurol Sci 41, 713–716 (2020). https://doi.org/10.1007/s10072-019-04065-1

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