This is a preview of subscription content, log in via an institution to check access.
References
Bienvenu T., Poirier K., Friocourt G., Bahi N., Beaumont D., Fauchereau F. et al. 2002 ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Mol. Genet. 11, 981–991.
Carrié A., Jun L., Bienvenu T., Vinet M. C., McDonell N., Couvert P. et al. 1999 A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat. Genet. 23, 25–31.
Chiurazzi P., Schwartz C. E., Gecz J. and Neri G. 2008 XLMR genes: update. Eur. J. Hum. Genet. 16, 422–434.
Cremer T. and Lichter P. 1992 Chromosome analysis by non-isotopic in situ hybridization. Human cytogenetics - a practical approach, pp. 157–192. IRL Press, New York, USA.
Demos M. K., Fullston T., Partington M. W., Gécz J. and Gibson W. T. 2009 Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. Am. J. Med. Genet. A. 149, 1482–1486.
Di Bella M. A., Calì F., Seidita G., Mirisola M., Ragusa A., Ragalmuto A. et al. 2006 Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation. Am. J. Med. Genet. B 141, 584–590.
Gambino F., Pavlowsky A., Béglé A., Dupont J. L., Bahi N., Courjaret R. et al. 2007 IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation. Proc. Natl. Acad. Sci. USA 104, 9063–9068.
Gimelli G., Giglio S., Zuffardi O., Alhonen L., Suppola S., Cusano R. et al. 2002 Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum. Genet. 111, 235–241.
Kato M., Das S., Petras K., Kitamura K., Morohashi K., Abuelo D. N. et al. 2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation. Hum. Mutat. 23, 147–159.
Kitamura K., Itou Y., Yanazawa M., Ohsawa M., Suzuki-Migishima R., Umeki Y. et al. 2009 Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum. Mol. Genet. 18, 3708–3724.
Kolomietz E., Godbole K., Winsor E. J., Stockley T., Seaward G. and Chitayat D. 2005 Functional disomy of Xp: prenatal findings and postnatal outcome. Am. J. Med. Genet. A. 134, 393– 398.
Kubota T., Nonoyama S., Tonoki H., Masuno M., Imaizumi K., Kojima M. et al. 1999 A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum. Genet. 104, 49–55.
Lugtenberg D., de Brouwer A. P., Kleefstra T., Oudakker A. R., Frints S. G., Schrander-Stumpel C. T. et al. 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J. Med. Genet. 43, 362–370.
Matsuo M., Muroya K., Kosaki K., Ishii T., Fukushima Y., Anzo M. et al. 1999 Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature. Am. J. Med. Genet. 86, 44–50.
Nawara M., Klapecki J., Borg K., Jurek M., Moreno S., Tryfon J. et al. 2008 Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. Am. J. Med. Genet. A. 146, 3167–3172.
Piton A., Michaud J. L., Peng H., Aradhya S., Gauthier J., Mottron L. et al. 2008 Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum. Mol. Genet. 17, 3965–3974.
Poirier K., Lacombe D., Gilbert-Dussardier B., Raynaud M., Desportes V., de Brouwer A. P. et al. 2006 Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics 7, 39–46.
Ruggieri M., Pavone P., Scapagnini G., Romeo L., Lombardo I., Li Volti G. et al. 2010 The aristaless (Arx) gene: one gene for many “interneuronopathies”. Front. Biosci. (Elite. Ed.) 2, 701– 710.
Strømme P., Mangelsdorf M. E., Shaw M. A., Lower K. M., Lewis S. M., Bruyere H. et al. 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30, 441–445.
Telvi L., Ion A., Carel J. C., Desguerre I., Piraud M., Boutin A. M. et al. 1996 A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. J. Med. Genet. 33, 767–771.
Thorson L., Bryke C., Rice G., Artzer A., Schilz C., Israel J. et al. 2010 Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am. J. Med. Genet. A. 152, 904–915.
Troester M. M., Trachtenberg T. and Narayanan V. 2007 A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. J. Child Neurol. 22, 744–748.
Author information
Authors and Affiliations
Corresponding author
Additional information
Piccione M., Sanfilippo C., Cavani S., Salatiello P., Malacarne M., Pierluigi M., Fichera M., Luciano D. and Corsello G. 2011 Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders. J. Genet. 90, xx-xx
Rights and permissions
About this article
Cite this article
PICCIONE, M., SANFILIPPO, C., CAVANI, S. et al. Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders. J Genet 90, 473–477 (2011). https://doi.org/10.1007/s12041-011-0096-4
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-011-0096-4