Trisomy X
Embryology - 26 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 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 <pubmed limit=5>Trisomy X</pubmed> |
Prenatal Diagnosis
Trisomy X Karyotype[5]
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[3]
References
- ↑ <pubmed>23162306</pubmed>| Indian J Hum Genet.
- ↑ <pubmed>25287572</pubmed>
- ↑ 3.0 3.1 <pubmed>20459843</pubmed>
- ↑ <pubmed>20568965</pubmed>
- ↑ 22346085</pubmed>| J Hum Reprod Sci.
Reviews
<pubmed>20459843</pubmed> <pubmed>17062147</pubmed>
Articles
<pubmed>19732877</pubmed> <pubmed>7815443</pubmed> <pubmed>1155452</pubmed> <pubmed>14452136</pubmed>
Search PubMed
Search Pubmed: Trisomy X
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- Genetics Home Reference triple X syndrome
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Cite this page: Hill, M.A. (2024, April 26) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_X
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G