Trisomy X: Difference between revisions
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* '''Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype'''{{#pmid:34083998|PMID34083998}} "Trisomy X syndrome is a sex chromosome aneuploidy with a variable clinical presentation at different stages of life. We present two asyndromic females with primary infertility and features of premature ovarian failure (POF). The first case was a nonmosaic trisomy X with poor ovarian reserve on pelvic ultrasound and elevated gonadotropins, while the second case was a mosaic trisomy X who had partly preserved ovarian reserve with normal gonadotropins. The 47,XXX syndrome is a relatively uncommon presentation of POF, leading to infertility and can be missed clinically because of its variable presentation. Therefore, we suggest that genetic testing should be a part of early workup in young women presenting with primary infertility and POF for detecting chromosomal aneuploidies, which will require genetic counseling and alter the management." | |||
* '''Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes'''{{#pmid:27018091|PMID27018091}} "This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis." | * '''Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes'''{{#pmid:27018091|PMID27018091}} "This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis." | ||
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* '''Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis'''{{#pmid:26952785|PMID26952785}} "Triple X patients showed premature activation of the GnRH pulse generator, even without puberty signs. Both basal and peak LH and FSH levels were higher than in control subjects, and E2 and inhibin levels and ovarian volume were reduced, which led to a reduced gonadal function." | |||
* '''A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome'''{{#pmid:25287572|PMID25287572}} "MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample." | * '''A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome'''{{#pmid:25287572|PMID25287572}} "MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample." | ||
Latest revision as of 14:48, 1 December 2021
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ICD-11 |
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LD50.1 Karyotype 47,XXX
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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 recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Trisomy X |
Older papers |
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These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.
See also the Discussion Page for other references listed by year and References on this current page.
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Prenatal Diagnosis
Trisomy X Karyotype[8]
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
Physical Features
Feature | Estimated frequency |
---|---|
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 source[6] |
Tetrasomy X
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[9] and intellectual disability.[10] A single case study has shown the presence of a Rathke's cleft cyst (RCC).[11] Tetrasomy X in males (49, XXXXY) is a similarly rare sex chromosome aneuploidy with associated limb abnormalities.[12] |
Male tetrasomy X karyotype[12] |
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.
- ↑ Singhal P, Singh S, Kumar P & Naredi N. (2021). Premature Ovarian Failure Related to Trisomy X: Two Case Reports with an Aberrant 47, XXX Karyotype. J Hum Reprod Sci , 14, 87-90. PMID: 34083998 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.
- ↑ 6.0 6.1 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.
- ↑ Kara C, Üstyol A, Yılmaz A, Altundağ E & Oğur G. (2014). Premature ovarian failure due to tetrasomy X in an adolescent girl. Eur. J. Pediatr. , 173, 1627-30. PMID: 24221609 DOI.
- ↑ 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.
- ↑ 12.0 12.1 Korgaonkar S & Vundinti BR. (2015). Tetrasomy X in a Child with Upper Limb Deformity. Indian Pediatr , 52, 439. PMID: 26061938
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
Search PubMed
Search Pubmed: Trisomy X
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Cite this page: Hill, M.A. (2024, June 14) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_X
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