Triple X syndrome
| Subclass of | chromosomal disease, polysomy of X chromosome, trisomy, disorder of sex development  |
|---|---|
| Health specialty | medical genetics |
Trisomy X, dem sanso know as triple X syndrome wey be characterized by de karyotype 47,XXX, be a chromosome disorder insyd wich a female get an extra copy of de X chromosome. E be relatively common den dey occur insyd 1 insyd 1,000 females, buh e be rarely diagnosed; fewer dan 10% of those plus de condition know say dem get am.
Those wey get symptoms fi get learning disabilities, mild dysmorphic features such as hypertelorism (wide-spaced eyes) den clinodactyly (incurved little fingers), early menopause, den increased height. As de symptoms of trisomy X often no be serious enough to prompt a karyotype test, chaw cases of trisomy X be diagnosed before birth via prenatal screening tests such as amniocentesis. Most females plus trisomy X dey live normal lives, although dema socioeconomic status be reduced compared to de general population.
Trisomy X dey occur via a process dem call nondisjunction, insyd wich normal cell division be interrupted den dey produce gametes plus too many anaa too few chromosomes. Nondisjunction be a random occurrence, den most girlies den women plus trisomy X get no family histories of chromosome aneuploidy. Advanced maternal age be mildly associated plus trisomy X. Women plus trisomy X fi get kiddies of dema own, wey insyd most cases no get an increased risk of chromosome disorders; women plus mosaic trisomy X, wey get a mixture of 46,XX (de typical female karyotype) den 47,XXX cells, fi get an increased risk of chromosomally abnormal kiddies.
Dem first report insyd 1959 by de geneticist Patricia Jacobs, na de early understanding of trisomy X be dat of a debilitating disability dem observe insyd institutionalized women. Beginning insyd de 1960s, studies of people plus sex chromosome aneuploidies from birth to adulthood find say dem often be only mildly affected, fitting insyd plus de general population, den dat many never need de attention of clinicians secof de condition.
References
[edit | edit source]Book sources
[edit | edit source]- Skuse, David; Printzlau, Frida; Wolstencroft, Jeanne (2018). "Sex chromosome aneuploidies". In Geschwind, Daniel H.; Paulson, Henry L.; Klein, Christine (eds.). Handbook of Clinical Neurology. Neurogenetics, Part I. Vol. 147. Elsevier. pp. 355–376. doi:10.1016/b978-0-444-63233-3.00024-5. ISBN 978-0-444-63233-3. PMID 29325624.
- Messer, K; D'Epagnier, C; Howell, S; Tartaglia, N (2013). "Trisomy X Syndrome (47,XXX)". Brenner's Encyclopedia of Genetics. Elsevier. pp. 195−197. doi:10.1016/b978-0-12-374984-0.01700-9. ISBN 978-0-08-096156-9..
External links
[edit | edit source]
- NLM (2008). Triple X syndrome Genetics Home Reference