| Triple X syndrome |
| Classification and external resources |
| Specialty |
Medical genetics |
| ICD-10 |
Q97.0 |
| DiseasesDB |
13386 |
| MeSH |
C535318 |
Triple X syndrome (also known as triplo-X, trisomy X, XXX syndrome, 47,XXX aneuploidy) is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. A mosaic form also occurs where only a percentage of the body cells contain XXX while the remainder carry XX. The extent to which an individual is affected by the condition will depend upon the proportion of XXX to XX throughout.[1] Triple X results during division of a parent's reproductive cells and occurs about once in every 1,000 female births. Unlike most other chromosomal conditions (such as Down syndrome), there is usually no distinguishable difference to the naked eye between those with triple X and the rest of the female population.
Contents
- 1 Signs and symptoms
- 2 Cause
- 3 Diagnosis
- 4 Epidemiology
- 5 History
- 6 References
- 7 External links
Signs and symptoms
Because the vast majority of Triple X females are never diagnosed, it may be very difficult to make generalizations about the effects of this syndrome. The samples that were studied were small and may be nonrepresentative or biased.
Because of the lyonization, inactivation, and formation of Barr bodies in all female cells, only one X chromosome is active at any time. Thus, Triple X syndrome most often has only mild effects, or has no unusual effects at all. Symptoms may include tall stature; small head (microcephaly); vertical skinfolds that may cover the inner corners of the eyes (epicanthal folds); speech and language learning disabilities, such as dyslexia; or weak muscle tone.[2] The symptoms vary from person to person, with some women being more affected than others. There are seldom any observable physical anomalies in Triple X females, other than being taller than average.
Females with Triple X syndrome are at increased risk of delayed language development, EEG abnormalities, motor coordination problems and auditory processing disorders, and scoliosis. They tend to show accelerated growth until puberty. Premature ovarian failure seems to be more prevalent in these women, but most Triple X females seem to have normal fertility. They are more likely to struggle with personality and psychological problems, and low self-esteem, but these respond well to treatment. Triple X females are at increased risk of poor academic results at school, and some may need special education. Sometimes, they may suffer from anxiety and be very shy, and this may affect their relations with school peers. They seem to feel much better after leaving school. They benefit very much from a stable home environment.[3]
Cause
Problems in male meiosis resulting in a male cell with 2 X-chromosomes.
Problems in female meiosis resulting in a female cell with 3 X-chromosomes.
Triple X syndrome is not inherited, but usually occurs as an event during the formation of reproductive cells (ovum and sperm). An error in cell division called nondisjunction can result in reproductive cells with additional chromosomes. For example, an oocyte or sperm cell may gain an extra copy of the X chromosome as a result of the non-disjunction. If one of these cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of her cells. In some cases, trisomy X occurs during cell division in early embryonic development.
Some females with triple X syndrome have an extra X chromosome in only some of their cells. These cases are called 46,XX/47,XXX mosaics.
Diagnosis
The vast majority of Triple X women are never diagnosed, unless they undergo tests for other medical reasons later in life. Triple X can be diagnosed by a blood test which is able to look at a person’s chromosomes (karyotype).
Triple X syndrome can be diagnosed prenatally through amniocentesis or chorionic villus sampling. In Denmark, between 1970 and 1984, 76% of the prenatally diagnosed fetuses with triple-X were aborted. Between 1985-1987, this figure dropped to 56%. With improved information, the number of abortions diminished. In the Netherlands, between 1991 and 2000, 33% (18/54) of the couples that were confronted with a prenatal diagnosis of 47,XXX elected to abort. If balanced information is provided to prospective parents, pre-natally, the incidence of voluntary termination (abortion) is reduced.[4]
Epidemiology
Triple X syndrome occurs in around 1 in 1,000 girls. On average, five to ten girls with triple X syndrome are born in the United States each day.[5]
History
The first published report of a woman with a 47,XXX karyotype was by Patricia A. Jacobs, et al. at Western General Hospital in Edinburgh, Scotland, in 1959. It was found in a 35‑year-old, 5 ft. 9 in. (176 cm) tall, 128 lb. (58.2 kg) woman who had premature ovarian failure at age 19; her mother was age 41 and her father was 40 at the time of her conception.[6] Jacobs, et al. called the 47,XXX woman a "superfemale", a term which was immediately criticized, did not gain acceptance, and was based on the incorrect assumption that the sex-determination system in mammals was the same as in the fruit fly Drosophila.[7] British pathologist and geneticist Bernard Lennox, the principal consultant on medical terms for the Oxford English Dictionary, suggested the term "XXX syndrome".[8]
References
- ^ Medical text written August 2002 by Contact a Family. Last reviewed February 2008 by Dr R Stanhope, Consultant Paediatric Endocrinologist, Institute of Child Health, London, UK. http://www.cafamily.org.uk/medicalinformation/conditions/azlistings/t40_1.html
- ^ http://www.mayoclinic.com/health/triple-x-syndrome/DS01090/DSECTION=symptoms
- ^ http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html
- ^ written by Connie T.R.M. Schrander-Stumpel, MD, PhD, Professor of Clinical Genetics, Academic Hospital Maastricht, Netherlands. http://www.triple-x-syndroom.nl/document31/patient+care+article+triplexsyndrome+or+trisomy+x
- ^ National Library of Medicine (2007). "Genetics Home Reference: Triple X syndrome". Retrieved 2007-03-22.
- ^ Jacobs, Patricia A.; Baikie, Albert G.; Court Brown, W. Michael; MacGregor, Thomas N.; Maclean, Neil; Harnden, David G. (September 26, 1959). "Evidence for the existence of the human 'super female'". Lancet 274 (7100): 423–425. doi:10.1016/S0140-6736(59)90415-5. PMID 14406377.
- ^ Stern, Curt (December 12, 1959). "Use of the term 'superfemale'". Lancet 274 (7111): 1088. doi:10.1016/S0140-6736(59)91557-0.
Jacobs, Patricia A.; Baikie, Albert G.; Court Brown, W. Michael; Harnden, David G.; MacGregor, Thomas N.; Maclean, Neil (December 19, 1959). "Use of the term 'superfemale'". Lancet 274 (7112): 1145. doi:10.1016/S0140-6736(59)90132-1.
Jacobs, Patricia A. (March 3–5, 2006). "The discovery and history of Trisomy X and XYY syndrome". National Conference on Trisomy X and XYY, UC Davis M.I.N.D. Institute, Sacramento, California. Pine, Colorado: KS&A.
Ferguson-Smith, Malcolm A. (December 2009). "It is 50 years since the discovery of the male determining role of the Y chromosome!". Sexual Development 3 (5): 233–236. doi:10.1159/000252792. PMID 19844083.
Ferguson-Smith, Malcolm A. (September 2011). "Putting medical genetics into practice". Annual Review of Genomics and Human Genetics 12: 1–23. doi:10.1146/annurev-genom-082410-101451. PMID 21639797.
- ^ Lennox, Bernard (January 2, 1960). "Use of the term 'superfemale'". Lancet 275 (7114): 55. doi:10.1016/S0140-6736(60)92744-6.
Fraser, Jean H.; Campbell, John; MacGillivray, Ronald Charles; Boyd, Elizabeth; Lennox, Bernard (September 17, 1960). "The XXX syndrome: frequency among mental defectives and fertility". Lancet 276 (7151): 626–627. doi:10.1016/S0140-6736(60)91696-2. PMID 13701513.
Anderson, John B.; Crofton, John (August 16, 1997). "Obituary: Bernard Lennox". BMJ 315 (7105): 432. doi:10.1136/bmj.315.7105.432.
External links
- NLM (2008). Triple X syndrome Genetics Home Reference
- Guy's Hospital Clinical Genetics Department (2001). Triple X information leaflet
- Nielsen, Johannes (1998). Triple-X Females. An Orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark.
- Triple X information booklet by Dr. Nielsen, a psychiatrist and geneticist who led the longest running of 8 international newborn screening studies of sex chromosome abnormalities.
|
Chromosome abnormalities (Q90–Q99, 758)
|
|
| Autosomal |
| Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
|
|
| Monosomies/deletions |
- 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
- Wolf–Hirschhorn syndrome
- Cri du chat/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
|
|
|
| X/Y linked |
| Monosomy |
|
|
Trisomy/tetrasomy,
other karyotypes/mosaics |
- Klinefelter syndrome (47,XXY)
- 48,XXYY
- 48,XXXY
- 49,XXXYY
- 49,XXXXY
- Triple X syndrome (47,XXX)
- 48,XXXX
- 49,XXXXX
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|
|
| Translocations |
| Leukemia/lymphoma |
| Lymphoid |
- Burkitt's lymphoma t(8 MYC;14 IGH)
- Follicular lymphoma t(14 IGH;18 BCL2)
- Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
- Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
- Acute lymphoblastic leukemia
|
|
| Myeloid |
- Philadelphia chromosome t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Acute promyelocytic leukemia t(15 PML,17 RARA)
- Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
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|
|
| Other |
- Ewing's sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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|
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| Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
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Index of developmental medicine
|
|
| Description |
- Embryology
- Cell lines
- Stem cells
- endoderm
- mesoderm
- ectoderm
|
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| Disease |
- Due to toxins
- Syndromes
- Chromosomal
- Neonate
- Twins
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