Trisomy X
Embryology - 25 Apr 2024 Expand to Translate |
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Introduction
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
| Genital System - Abnormalities
Some Recent Findings
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More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Trisomy X <pubmed limit=5>Trisomy X</pubmed> |
Prenatal Diagnosis
Trisomy X Karyotype[6]
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
Physical Features
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)[4]
References
- ↑ 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.
- ↑ 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.
- ↑ 4.0 4.1 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.
Reviews
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.
Visootsak J & Graham JM. (2006). Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis , 1, 42. PMID: 17062147 DOI.
Articles
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
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Cite this page: Hill, M.A. (2024, April 25) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_X
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