Sex chromosome anomalies

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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:

AnomolyFrequency
45, X, also known as Turner syndrome1 in 2,000-5,000 (female) [1]
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis1 in 15,000 [2]
46, XX/XY
47, XXX, also known as trisomy X or triple X syndrome1 in 1,000 (female) [3]
47, XXY, also known as Klinefelter syndrome1 in 500-1,000 [4]
47, XYY, also known as Jacobs syndrome1 in 1,000 (male) [5]
48, XXXX, also known as tetrasomy X1 in 50,000 (female) [6]
48, XXXY 1 in 50,000 [7]
48, XXYY 1 in 18,000-40,000 (male) [8]
48, XYYY 12 recorded cases (male) [9]
49, XXXXY 1 in 85,000-100,000 (male) [10]
49, XYYYY 7 recorded cases (male) [11]
49, XXXXX, also known as pentasomy X1 in 85,000-250,000 [12] [13]
46, XX gonadal dysgenesis
46, XY gonadal dysgenesis, also known as Swyer syndrome1 in 100,000 [14]
46, XX male syndrome, also known as de la Chapelle syndrome1 in 20,000 [15]

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.)

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  1. ↑ 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. ↑ 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.
  4. ↑ 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.
  5. ↑ "47,XYY syndrome: MedlinePlus Genetics". Genetics Home Reference. January 2009. Retrieved 2025-09-26.
  6. ↑ Davis, Andrew S., ed. (2013). Psychopathology of childhood and adolescence: a neuropsychological approach. New York: Springer Pub. Co. ISBN   978-0-8261-0920-0.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ Davis, Andrew S., ed. (2013). Psychopathology of childhood and adolescence: a neuropsychological approach. New York: Springer Pub. Co. ISBN   978-0-8261-0920-0.
  14. ↑ 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.
  15. ↑ 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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