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Trisomy X is a caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). This is also the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births.
Other abnormalities of chromosome number include: female tetrasomy X (quadruple X, or 48, XXXX) a rare chromosomal disorder and male Klinefelter syndrome, the presence of an additional X chromosome (47, XXY or XXY).
- Alternative names: Triplo X syndrome, Trisomy X, 47,XXX, XXX syndrome
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
Search term: Trisomy X
<pubmed limit=5>Trisomy X</pubmed>
Trisomy X Karyotype
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
|Feature||Estimated frequency based on current available data|
|Tall stature >75th percentile||80 - 89 %|
|Epicanthal folds||32 - 46 %|
|Clinodactyly||42 - 65 %|
|Hypotonia in infancy||55 - 71 %|
|Genitourinary malformations||5 - 16 %|
|Seizure disorder||11 - 15 %|
|Intention tremor||6 - 20 %|
|Congenital hip dysplasia||2 - 12 %|
|Constipation/Abdominal pains||12 - 45 %|
|Premature ovarian failure||unknown|
Table data from Tartaglia NR, etal., (2010)
Tetrasomy X is due to two non-disjunction events in maternal oocyte meiosis. Tetrasomy X (48, XXXX) is a rare female disorder associated with: facial dysmorphism, premature ovarian insufficiency and intellectual disability. A single case study has shown the presence of a Rathke's cleft cyst (RCC). Tetrasomy X in males (49, XXXXY) is a similarly rare sex chromosome aneuploidy with associated limb abnormalities.
- Venkateshwari A, Srimanjari K, Srilekha A, Begum A, Sujatha M, Sunitha T, Nallari P & Jyothy A. (2012). Mosaic triple X syndrome in a female with primary amenorrhea. Indian J Hum Genet , 18, 246-9. PMID: 23162306 DOI.
- Gruchy N, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez Pocquet M, Lebel-Roy C, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge-Rame MA, Vago P, Valduga M, Leporrier N & Vialard F. (2016). Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study. Prenat. Diagn. , 36, 523-9. PMID: 27018091 DOI.
- Stagi S, di Tommaso M, Scalini P, Lapi E, Losi S, Bencini E, Masoni F, Dosa L, Becciani S & de Martino M. (2016). Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis. Fertil. Steril. , 105, 1547-53. PMID: 26952785 DOI.
- Lenroot RK, Blumenthal JD, Wallace GL, Clasen LS, Lee NR & Giedd JN. (2014). A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome. Genes Brain Behav. , 13, 841-9. PMID: 25287572 DOI.
- Tartaglia NR, Howell S, Sutherland A, Wilson R & Wilson L. (2010). A review of trisomy X (47,XXX). Orphanet J Rare Dis , 5, 8. PMID: 20459843 DOI.
- Lähdesmäki RE & Alvesalo LJ. (2010). Root length in the permanent teeth of women with an additional X chromosome (47,XXX females). Acta Odontol. Scand. , 68, 223-7. PMID: 20568965 DOI.
- Kodandapani S, Pai MV, Nambiar J & Moka R. (2011). Premature ovarian aging in primary infertility: Triple X syndrome. J Hum Reprod Sci , 4, 153-4. PMID: 22346085 DOI.
- Korgaonkar S & Vundinti BR. (2015). Tetrasomy X in a Child with Upper Limb Deformity. Indian Pediatr , 52, 439. PMID: 26061938
- Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T & Gropman A. (2015). Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. Am. J. Med. Genet. A , 167A, 2251-9. PMID: 26086740 DOI.
- Uppal S, Jee YH, Lightbourne M, Han JC & Stratakis CA. (2017). Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. Hormones (Athens) , 16, 92-98. PMID: 28500832 DOI.
Brambila-Tapia AJ, Rivera H, García-Castillo H, Domínguez-Quezada MG & Dávalos-Rodríguez IP. (2009). 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development. Fertil. Steril. , 92, 1747.e5-7. PMID: 19732877 DOI.
Lester T, de Alwis M, Clark PA, Jones AM, Katz F, Levinsky RJ & Kinnon C. (1994). Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. J. Med. Genet. , 31, 717-20. PMID: 7815443
Tennes K, Puck M, Bryant K, Frankenburg W & Robinson A. (1975). A developmental study of girls with trisomy X. Am. J. Hum. Genet. , 27, 71-80. PMID: 1155452
JOHNSTON AW, FERGUSON-SMITH MA, HANDMAKER SD, JONES HW & JONES GS. (1961). The triple-X syndrome. Clinical, pathological, and chromosomal studies in three mentally retarded cases. Br Med J , 2, 1046-52. PMID: 14452136
Search Pubmed: Trisomy X
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Cite this page: Hill, M.A. (2020, May 27) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_X
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