47 XXX syndrome

47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or by a chorionic villus sampling (CVS) procedure. However, in these cases, confirmation testing with a test called FISH, which gives more details of the chromosomes, is recommended in order to evaluate the fetus for mosaicism (when only some of the cells have the extra X chromosome).

Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in the early development of an embryo. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).

Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a <5% increased risk for a chromosomally abnormal pregnancy, and other more recent reports suggest that <1% may be more accurate. These risks are separate from the risks of having a chromosomally abnormal pregnancy due to maternal age or any other factors. Furthermore, these risks generally apply only to women with non-mosaic 47 XXX syndrome, as mosaicism may increase the risk of passing on an abnormal number of X chromosomes and potential outcomes. Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.

Much of what has been studied regarding growth of girls with 47 XXX syndrome has been in regards to height. These studies have found that girls with 47 XXX syndrome can have very subtle differences in growth (some are slightly taller than peers), although cases of 47 XXX syndrome occurring in association with short stature has also been described. We found less information regarding weight in our search. Weight and length at birth tend to be normal. While it does not appear that significant differences in weight is common among girls with 47 XXX syndrome, one small study by Ratcliffe SG 1994, found girls with 47 XXX syndrome tend to have an overall lower weight than girls without the syndrome.

There are two older studies that showed girls with 47 XXX syndrome have slightly increased frequencies of attention difficulties and ADHD.

In 2009, a study in the United Kingdom on the development of children with an extra sex chromosome (the DIESC study) reported additional information on girls with 47 XXX syndrome and behavior. This study found that affected girls were more likely to have some behavior and hyperactivity concerns. However, only 15% of them scored at levels that would cause any concern. Hyperactivity was only found in the girls who were diagnosed with 47 XXX syndrome after their first birthday (that is, a biased group). In this group, the difficulties seemed greater for older girls than for younger girls. This study also found that girls were more prone than their siblings to behaviors such as temper tantrums and stubbornness.

The organization Unique is a source of information and support for families and individuals affected by rare chromosome disorders. They have developed a guide called "Triple X syndrome" where you can read more about the development and behavior of people with this condition.

You may also find another resource called the "XXX study day report" helpful as it has information on learning and behavior. The information in this report was obtained from families with a daughter with 47 XXX syndrome who met with experts and researchers at a study day in Oxford, UK in September 2007.

It is possible that your granddaughter's chromosomal abnormality has contributed to her diagnosis of ADHD. However, there may be other factors involved in her ADHD as well. The National Institute of Mental Health (NIMH), part of the National Institutes of Health (NIH), has a web page which discusses the causes of ADHD.

You can find relevant articles on 47 XXX syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "47 XXX" or "trisomy X" as your search term should help you locate articles. Use the Advanced and/or Limits search features to narrow your search results.
http://www.ncbi.nlm.nih.gov/PubMed

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Although there may not be any clinical trials listed on 47 XXX syndrome at a particular point in time, this site can be checked often for regular updates. To search for trials, click on the link above and enter "47 XXX" or "trisomy X" as your search term.

Most females with 47 XXX have normal sexual development and are able to conceive children. However, some individuals have been found to have premature ovarian failure (POF), or ovary abnormalities (such as malformed ovaries). Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte (egg) development become impaired before the typical age for menopause. There are multiple reports of women with the condition found to have POF; the ages have ranged from 19 to 40 years. Studies on the prevalence of POF in women with 47 XXX syndrome have not yet been performed. One study that performed genetic screening on women with POF identified 47 XXX syndrome in 3% of cases.

There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Recommendations include:

• Early intervention services for infants and children that are diagnosed with the condition. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. These services may include speech, occupational, physical or developmental therapy, starting in the early months of life or as soon as needs are identified.
• Periodic screenings throughout childhood: Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems.
• Educational assistance. Receiving educational help to learn techniques and strategies to be successful in school and daily life.
• Supportive environment and counseling. Girls with triple X syndrome may be more prone to anxiety, as well as behavior and emotional problems. It is important to have a supportive environment and psychological counseling which may help teaching the family how to demonstrate love and encouragement, and discourage behaviors that might negatively impact learning and social functioning.
• Assistance and support in daily functioning. If there is developmental delays, this assistance and support may include help with activities of daily living, social opportunities and employment.

It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.