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XXXXY Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

49,XXXXY syndrome was first described by Fraccaro and Lindsten in 1960. The incidence is estimated to be approximately 1 in 85,000 newborn males (Pallister 1982).

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References

  • Blumenthal, J. D., Baker, E. H., Lee, N. R., et al. (2013). Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. NeuroImage: Clinical, 2, 197–203.

    Article  Google Scholar 

  • Chen, C.-P., Chern, S.-R., Chang, C.-L., et al. (2000). Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY. Prenatal Diagnosis, 20, 754–757.

    Article  CAS  PubMed  Google Scholar 

  • Curfs, L. M., Schreppers-Tijdink, G., Wiegers, A., et al. (1990). The 49,XXXXY syndrome: Clinical and psychological findings in five patients. Journal of Mental Deficiency Research, 34, 277–282.

    PubMed  Google Scholar 

  • Deng, H. X., Abe, K., Kondo, I., et al. (1991). Parental origin and mechanism of formation of polysomy X: An XXXXX case and four XXXXY cases determined with RFLPs. Human Genetics, 86, 541–544.

    Article  CAS  PubMed  Google Scholar 

  • Dhakar, M. B., Ilyyas, M., Jeong, J.-W., et al. (2016). Frontal aslant tract abnormality on diffusion tensor imaging in an aphasic patient with 49, XXXXY syndrome. Pediatric Neurology, 55, 64–67.

    Article  PubMed  Google Scholar 

  • Etemadi, K., Basir, B., & Ghahremani, S. (2015). Neonatal diagnosis of 49, XXXXY syndrome. Reproductive Medicine, 13, 181–184.

    Google Scholar 

  • Galasso, C., Arpino, C., Fabbri, F., et al. (2003). Neurologic aspects of 49,XXXXY syndrome. Journal of Child Neurology, 18, 501–504.

    Article  PubMed  Google Scholar 

  • Gropman, A. L., Rogol, A., Fennoy, I., et al. (2010). Clinical variability and novel neurodevelopmental findings in 49,XXXXY syndrome. American Journal of Medical Genetics Part A, 152A, 1523–1530.

    PubMed  Google Scholar 

  • Hajrasouliha, A. R., Moss, H. E., Maralani, P. J., et al. (2016). Macular detachment associated with anomalous optic nerves and dural ectasia in 49,XXXXY syndrome. Retinal Cases & Brief Reports, 2016 September 8 [Epub ahead of print].

    Google Scholar 

  • Hoffman, T. L., Vossough, A., Ficicioglu, C., et al. (2008). Brain magnetic resonance imaging findings in 49,XXXXY syndrome. Pediatric Neurology, 38, 450–453.

    Article  PubMed  PubMed Central  Google Scholar 

  • Houston, C. S. (1967). Roentgen findings in the XXXXY chromosome anomaly. Journal of the Canadian Association of Radiologists, 18, 258–267.

    CAS  PubMed  Google Scholar 

  • Karsh, R. B. (1975). Congenital heart disease in 49,XXXXY syndrome. Pediatrics, 56, 462–464.

    CAS  PubMed  Google Scholar 

  • Keller, M. D., Sadeghin, T., Samango-Sprouse, C., et al. (2013). Immunodeficiency in patients with 49,XXXXY chromosomal variation. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 15(163C), 50–54.

    Article  Google Scholar 

  • Kidszun, A., Fuchs, A.-J., Russo, A., et al. (2012). Skeletal abnormalities of the upper limbs — Neonatal diagnosis of 49,XXXXY syndrome. Gene, 508, 117–120.

    Article  CAS  PubMed  Google Scholar 

  • Kojima, Y., Hayashi, Y., Maruyama, T., et al. (1999). 49,XXXXY syndrome with hydronephrosis caused by intravesical ureterocele. Urologia Internationalis, 63, 212–214.

    Article  CAS  PubMed  Google Scholar 

  • Lomelino, C. A., & Reiss, A. L. (1991). 49,XXXXY syndrome: Behavioural and developmental profiles. Journal of Medical Genetics, 28, 609–612.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Maqdasy, S., Bogenmann, L., Batisse-Lignier, M., et al. (2015). Leydig cell tumor in a patient with 49,XXXXY karyotype: A review of literature. Reproductive Biology and Endocrinology, 13, 1–9.

    Article  CAS  Google Scholar 

  • Mazzilli, R., Delfino, M., Elia, J., et al. (2016). Testosterone replacement in 49,XXXXY syndrome: Andrological, metabolic and neurological aspects. Endocrinology, Diabetes & Metabolism Case Reports. doi:10.1530/EDM-15-0114.

    Google Scholar 

  • Milani, D., Bonarrigo, F., Avignone, S., et al. (2015). 48, XXXY/49, XXXXY mosaic: New neuroradiological features in an ultra-rare syndrome. Italian Journal of Pediatrics, 41, 1–4.

    Article  Google Scholar 

  • Nishimura, T., Nii, E., Urawa, M., et al. (2008). Proximal tibiofibular synostosis with 49, XXXXY syndrome, a rare congenital bone anomaly. Journal of Orthopaedic Science, 13, 390–395.

    Article  PubMed  Google Scholar 

  • Pallister, P. D. (1982). 49,XXXXY syndrome. American Journal of Medical Genetics, 13, 337–339.

    Article  CAS  PubMed  Google Scholar 

  • Peet, J., Weaver, D. D., & Vance, G. H. (1998). 49,XXXXY: A distinct phenotype Three new cases and review. Journal of Medical Genetics, 35, 420–424.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Peitsidis, P., Manolakos, E., Peitsidou, A., et al. (2009). Pentasomy 49,XXXXY Diagnosed in utero: Case report and systematic review of antenatal findings. Fetal Diagnosis and Therapy, 26, 1–5.

    Article  CAS  PubMed  Google Scholar 

  • Rehder, H., Fraccaro, M., Cuoco, C., et al. (1986). The fetal pathology of the XXXXY-syndrome. Clinical Genetics, 30, 213–218.

    Article  CAS  PubMed  Google Scholar 

  • Schluth, C., Doray, B., Girard-Lemaire, F., et al. (2002). Prenatal sonographic diagnosis of the 49,XXXXY syndrome. Prenatal Diagnosis, 22, 1177–1180.

    Article  PubMed  Google Scholar 

  • Sepulveda, W., Ivankovic, M., Be, C., et al. (1999). Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks’ gestation. Prenatal Diagnosis, 19, 257–259.

    Article  CAS  PubMed  Google Scholar 

  • Sprouse, C., Tosi, L., Stapleton, E., et al. (2013). Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C, 44–49.

    Article  Google Scholar 

  • Tabarki, B., Al Shafi, S., Al Adwani, N., et al. (2012). Further magnetic resonance imaging (MRI) Brain delineation of 49,XXXXY syndrome. Journal of Child Neurology, 27, 650–653.

    Article  PubMed  Google Scholar 

  • Villamar, M., Benitez, J., Fernandez, E., et al. (1989). Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques. Clinical Genetics, 36, 152–155.

    Article  CAS  PubMed  Google Scholar 

  • Zaleski, W. A., Houston, C. S., Pozsonyi, J., et al. (1966). The XXXXY chromosome anomaly: Report of three new cases and review of 30 cases from the literature. Canadian Medical Association Journal, 94, 1143–1154.

    CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). XXXXY Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_253

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_253

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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