Trisomy X: Difference between revisions
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* A review of trisomy X (47,XXX)<ref name=PMID20459843><pubmed>20459843</pubmed></ref> "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births." | |||
* ''' Root length in the permanent teeth of women with an additional X chromosome (47,XXX females)'''<ref name=PMID20568965><pubmed>20568965</pubmed></ref> "Increased enamel thickness in the teeth of 47,XXX females is apparently caused by the active enamel gene in all X chromosomes having no increased influence on crown dentin formation. These results in 47,XXX females indicate an increase in root dentin development, at least in the mandible, which together with the data on crown formation reflects a continuous long-lasting effect of the X chromosome on dental development." | * ''' Root length in the permanent teeth of women with an additional X chromosome (47,XXX females)'''<ref name=PMID20568965><pubmed>20568965</pubmed></ref> "Increased enamel thickness in the teeth of 47,XXX females is apparently caused by the active enamel gene in all X chromosomes having no increased influence on crown dentin formation. These results in 47,XXX females indicate an increase in root dentin development, at least in the mandible, which together with the data on crown formation reflects a continuous long-lasting effect of the X chromosome on dental development." | ||
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==Physical Features== | ==Physical Features== |
Revision as of 02:14, 24 April 2011
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).
| Genital System - Abnormalities
Some Recent Findings
|
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
Reviews
<pubmed>17062147</pubmed>
Articles
<pubmed> 19732877</pubmed>
Search PubMed
Search Pubmed: Trisomy X
External Links
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Cite this page: Hill, M.A. (2024, March 29) 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