Triple X syndrome - Wikipedia, the free encyclopedia

http://en.wikipedia.org/wiki/Triple_X_syndrome

Triple X syndrome
From Wikipedia, the free encyclopedia

Triple X syndrome (also known as triplo-X, trisomy

Triple X syndrome
X, XXX syndrome, 47,XXX aneuploidy) is a form
of chromosomal variation characterized by the
Classification and external resources
presence of an extra X chromosome in each cell of a
ICD-10
Q97.0 (http://apps.who.int
human female. Females with triple X syndrome have
/classifications/icd10/browse/2015/en#
three X chromosomes instead of two. The karyotype
/Q97.0)
reads 47,XXX because the affected individual has 47
chromosomes, as opposed to the usual 46. A mosaic
DiseasesDB 13386
form also occurs where only a percentage of the body
(http://www.diseasesdatabase.com
cells contain XXX while the remainder carry XX. The
/ddb13386.htm)
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 Cause
2 Symptoms
3 Incidence
4 First case
5 Diagnosis
6 See also
7 References
8 External links

Cause
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

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cases are called 46,XX/47,XXX mosaics.

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.

Problems in male meiosis resulting in

a male cell with 2 X-chromosomes.

Problems in female meiosis resulting

in a female cell with 2
X-chromosomes.

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]

Incidence
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.[4]

First case
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.[5] 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

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incorrect assumption that the sex-determination system in mammals was the same as in the fruit fly
Drosophila.[6] British pathologist and geneticist Bernard Lennox, the principal consultant on medical
terms for the Oxford English Dictionary, suggested the term "XXX syndrome".[7]

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 persons
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.[8]

See also
Klinefelter syndrome
Turner syndrome
XXXX syndrome
XXXXX syndrome
XYY syndrome

References
1. 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
2. http://www.mayoclinic.com/health/triple-x-syndrome/DS01090/DSECTION=symptoms
3. http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html
4. National Library of Medicine (2007). "Genetics Home Reference: Triple X syndrome"
(http://ghr.nlm.nih.gov/condition=triplexsyndrome). Retrieved 2007-03-22.
5. 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): 423425. doi:10.1016/S0140-6736(59)90415-5 (https://dx.doi.org
/10.1016%2FS0140-6736%2859%2990415-5). PMID 14406377 (https://www.ncbi.nlm.nih.gov/pubmed
/14406377).
6. Stern, Curt (December 12, 1959). "Use of the term 'superfemale' ". Lancet 274 (7111): 1088.
doi:10.1016/S0140-6736(59)91557-0 (https://dx.doi.org/10.1016%2FS0140-6736%2859%2991557-0).
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 (https://dx.doi.org/10.1016%2FS0140-6736%2859%2990132-1).
Jacobs, Patricia A. (March 35, 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. DVD 02.
Pine, Colorado: KS&A.
Ferguson-Smith, Malcolm A. (December 2009). "It is 50 years since the discovery of the male determining
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role of the Y chromosome!". Sexual Development 3 (5): 233236. doi:10.1159/000252792 (https://dx.doi.org

/10.1159%2F000252792). PMID 19844083 (https://www.ncbi.nlm.nih.gov/pubmed/19844083).
Ferguson-Smith, Malcolm A. (September 2011). "Putting medical genetics into practice"
(http://www.annualreviews.org/doi/full/10.1146/annurev-genom-082410-101451). Annual Review of
Genomics and Human Genetics 12: 123. doi:10.1146/annurev-genom-082410-101451 (https://dx.doi.org
/10.1146%2Fannurev-genom-082410-101451). PMID 21639797 (https://www.ncbi.nlm.nih.gov/pubmed
/21639797).
7. Lennox, Bernard (January 2, 1960). "Use of the term 'superfemale' ". Lancet 275 (7114): 55.
doi:10.1016/S0140-6736(60)92744-6 (https://dx.doi.org/10.1016%2FS0140-6736%2860%2992744-6).
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): 626627. doi:10.1016/S0140-6736(60)91696-2 (https://dx.doi.org
/10.1016%2FS0140-6736%2860%2991696-2). PMID 13701513 (https://www.ncbi.nlm.nih.gov/pubmed
/13701513).
Anderson, John B.; Crofton, John (August 16, 1997). "Obituary: Bernard Lennox"
(http://www.accessmylibrary.com/article-1G1-19724979/bernard-lennox-obituary.html). BMJ 315 (7105):
432. doi:10.1136/bmj.315.7105.432 (https://dx.doi.org/10.1136%2Fbmj.315.7105.432).
8. 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

External links
NLM (2008). Triple X syndrome (http://ghr.nlm.nih.gov/condition=triplexsyndrome) Genetics
Home Reference
Guy's Hospital Clinical Genetics Department (2001). Triple X (http://www.bshg.org.uk
/leaflets_forum/leaflets/TripXpro.pdf) information leaflet
Nielsen, Johannes (1998). Triple-X Females. An Orientation (http://www.turnercenteret.dk
/engelsk/triplex.htm). 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.
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Categories: Sex chromosome aneuploidies Syndromes
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