Courtney Sprouse graduated from the University of Pittsburgh with a B.S. in Neuroscience and a minor in Chemistry. She has been working as a clinical research assistant for Dr. Laura Tosi, Director of Bone Health at Children's National Medical Center, and Dr. Andrea Gropman, Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children's National Medical Center.
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY†
Article first published online: 28 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Medical and Neurodevelopmental Aspects of XXY and Related Multiple X Conditions
Volume 163, Issue 1, pages 44–49, 15 February 2013
How to Cite
Sprouse, C., Tosi, L., Stapleton, E., Gropman, A. L., Mitchell, F. L., Peret, R., Sadeghin, T., Haskell, K. and Samango-Sprouse, C. A. (2013), Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am. J. Med. Genet., 163: 44–49. doi: 10.1002/ajmg.c.31354
How to Cite this Article: Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. 2013. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet Part C Semin Med Genet 163C: 44–49.
- Issue published online: 28 JAN 2013
- Article first published online: 28 JAN 2013
- 1962. The XXXXY sex chromosome abnormality. Can Med Assoc J 187:891–901. , , , , , , , , .
- 1999. Rare sex chromosome aneuploidies in humans: Report of six patients with 48, XXYY, 49, XXXXY, and 48, XXXX karyotypes Am J Med Genet 85:86–87. , , , , , .
- 1968. Skeletal changes in a case of unusual chromosome aberration. (Patient with chromosome complex 48, XXXX-49, XXXXX: Comparison with the syndrome 49, XXXXY). Radiol Med 54:737–750. , .
- 2001. Bone mineral density and bone markers in hypogonadotropic and hypergonadotropic hypogonadal men after prolonged testosterone treatment. J Endocrinol Invest 24:246–252. , , , , , , .
- 1960. A child with 49 chromosomes. Lancet 2:899–902. , , .
- 2010. Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. Am J Med Genet Part A 152:1523–1530. , , , , , , , , , .
- 2011. Births: Preliminary data for 2010. National Vital Statistics Reports; vol 60, no 2. Hyattsville, MD: National Center for Health Statistics. , , .
- 1959. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303. , .
- 2006. Smith's recognizable patterns of human malformation, 6th edition. Philadelphia, PA: Elsevier, Inc. pp 68–71. .
- 1942. Syndrome characterized by gynecomastia aspermatogenes without Aleydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab 2:615–627. , , .
- 1995. Sex chromosome tetrasomy and pentasomy. Pediatrics 96:672–682. , , .
- 2012. Births: Final Data for 2010. National Vital Statistics Reports; vol 61, no 1. Hyattsville, MD: National Center for Health Statistics. , , , , , .
- 2008. Proximal tibiofibular synostosis with 49, XXXXY syndrome, a rare congenital bone anomaly. J Orthop Sci 13:390–395. , , , , , .
- 1993. XXXXY syndrome. Ryoikibetsu Shokogun Shirizu 1:821–823. .
- 1998. 49: XXXXY: A distinct phenotype. Three new cases and review. J Med Genet 35:420–424. , , .
- 2011. Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr 100:861–865. , , , , , .
- 1978. Epiphyseal dysplasia: A constant finding in the XXXXY syndrome. J Med Genet 15:282–287. , , .
- 2003. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genet Med 5:460–468. , , , , , , , , , , , , , , , , , , , .
- 2011. 48,XXYY, 48, XXXY and 49,XXXXY syndromes: Not just variants of Klinefelter syndrome. Acta Paediatr 100:851–860. , , , , .
- 2006. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42. .
- 2007. Behavioral phenotype of sex chromosome aneuploidies: 48, XXYY, 48, XXXY, and 49,XXXXY. Am J Med Genet Part A 143A:1198–1203. .
- 1966. The XXXXY chromosome anomaly: Report of three new cases and review of 30 cases from the literature. Can Med Assoc J 94:1143–1154. , , , .