Sex chromosome anomalies

Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes).

In humans this may refer to:

Anomaly Frequency
45, X, also known as Turner syndrome 1 in 2,000-5,000 (female)[1]
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis 1 in 15,000[2]
46, XX/XY
47, XXX, also known as trisomy X or triple X syndrome 1 in 1,000 (female)[1]
47, XXY, also known as Klinefelter syndrome 1 in 500-1,000[3]
47, XYY, also known as Jacobs syndrome 1 in 1,000 (male)[4]
48, XXXX, also known as tetrasomy X 1 in 50,000 (female)[5]
48, XXXY 1 in 50,000[6]
48, XXYY 1 in 18,000-40,000 (male)[7]
48, XYYY 12 recorded cases (male)[8]
49, XXXXY 1 in 85,000-100,000 (male)[9]
49, XYYYY 7 recorded cases (male)[10]
49, XXXXX, also known as pentasomy X 1 in 85,000-250,000[11][5]
46, XX gonadal dysgenesis
46, XY gonadal dysgenesis, also known as Swyer syndrome 1 in 100,000[12]
46, XX male syndrome, also known as de la Chapelle syndrome 1 in 20,000[13]

In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)

References

  1. 1 2 Donaldson, M. D. C.; Gault, E. J.; Tan, K. W.; Dunger, D. B. (2006-06-01). "Optimising management in Turner syndrome: from infancy to adult transfer". Archives of Disease in Childhood. 91 (6): 513–520. doi:10.1136/adc.2003.035907. ISSN 0003-9888. PMC 2082783. PMID 16714725.
  2. ↑ Lindhardt Johansen, Marie; Hagen, Casper P.; Rajpert-De Meyts, Ewa; Kjærgaard, Susanne; Petersen, Bodil L.; Skakkebæk, Niels E.; Main, Katharina M.; Juul, Anders (2012-08-01). "45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function—A Retrospective Longitudinal Study". The Journal of Clinical Endocrinology & Metabolism. 97 (8): E1540 – E1549. doi:10.1210/jc.2012-1388. ISSN 0021-972X. PMID 22605431.
  3. ↑ Nielsen, Johannes; Wohlert, Mogens (1991). "Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark". Human Genetics. 87 (1): 81–83. doi:10.1007/bf01213097. ISSN 0340-6717. PMID 2037286.
  4. ↑ "47,XYY syndrome: MedlinePlus Genetics". Genetics Home Reference. January 2009. Retrieved 2025-09-26.
  5. 1 2 Davis, Andrew S., ed. (2013). Psychopathology of childhood and adolescence: a neuropsychological approach. New York: Springer Pub. Co. ISBN 978-0-8261-0920-0.
  6. ↑ Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip (2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j.1651-2227.2011.02235.x. ISSN 1651-2227. PMC 3314712. PMID 21342258.
  7. ↑ Tartaglia, Nicole; Davis, Shanlee; Hench, Alison; Nimishakavi, Sheela; Beauregard, Renee; Reynolds, Ann; Fenton, Laura; Albrecht, Lindsey; Ross, Judith; Visootsak, Jeannie; Hansen, Robin; Hagerman, Randi (2008). "A new look at XXYY syndrome: Medical and psychological features". American Journal of Medical Genetics Part A. 146A (12): 1509–1522. doi:10.1002/ajmg.a.32366. ISSN 1552-4833. PMC 3056496. PMID 18481271.
  8. ↑ Rausch, John L. (January 2012). "A Case Study of the Identity Development of an Adolescent Male with Emotional Disturbance and 48, XYYY Karyotype in an Institutional Setting". Qualitative Report. 17 (1): 222–243. ISSN 1052-0147.
  9. ↑ Visootsak, Jeannie; Graham, John M. (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
  10. ↑ Demily, Caroline; Poisson, Alice; Peyroux, Elodie; Gatellier, Valérie; Nicolas, Alain; Rigard, Caroline; Schluth-Bolard, Caroline; Sanlaville, Damien; Rossi, Massimiliano (2017-01-31). "Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature". BMC Medical Genetics. 18 (1): 9. doi:10.1186/s12881-017-0371-1. ISSN 1471-2350. PMC 5282903. PMID 28137251.
  11. ↑ Moraes, Lucia M.; Cardoso, Leila CA; Moura, Vera LS; Moreira, Miguel AM; Menezes, Albert N.; Llerena, Juan C.; Seuánez, Héctor N. (2009-10-07). "Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy". Molecular Cytogenetics. 2 (1): 20. doi:10.1186/1755-8166-2-20. ISSN 1755-8166. PMC 2766382. PMID 19811657.
  12. ↑ Witchel, Selma Feldman (2018-04-01). "Disorders of sex development". Best Practice & Research Clinical Obstetrics & Gynaecology. 48: 90–102. doi:10.1016/j.bpobgyn.2017.11.005. ISSN 1521-6934. PMC 5866176. PMID 29503125.
  13. ↑ de la Chapelle, Albert (1981-08-01). "The etiology of maleness in XX men". Human Genetics. 58 (1): 105–116. doi:10.1007/BF00284157. ISSN 1432-1203. PMID 6945286.
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